Mutations of gonadotropins and gonadotropin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function

Endocrine Reviews

Volumn 21, Issue 5, 2000, Pages 551-583

  Themmen, Axel P N ^a   Huhtaniemi, Ilpo T ^b,c  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b UNIVERSITY OF TURKU   (Finland)

^c UNIVERSITY OF ABERDEEN   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; GONADOTROPIN DERIVATIVE; GONADOTROPIN RECEPTOR; LUTEINIZING HORMONE;

ANIMAL CELL; GENE ACTIVATION; GENE MUTATION; GENE STRUCTURE; GENETIC POLYMORPHISM; HORMONE ACTION; HORMONE RESISTANCE; HUMAN; HYPOPHYSIS GONAD SYSTEM; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECEPTOR GENE; REVIEW;

EID: 0033711033     PISSN: 0163769X     EISSN: None     Source Type: Journal    
DOI: 10.1210/edrv.21.5.0409     Document Type: Review

References (335)

1. Synthesis of the sex steroid hormones: Molecular and structural biology with applications to clinical practice
2. Fertility and infertility: Genetic contributions from the hypothalamic-pituitary-gonadal axis
3. Gonadotropins. Chemistry and biosynthesis
4. Identification of the transcriptionally active genes of the chorionic gonadotropin β gene cluster in vivo
5. The cDNA for the β-subunit of human chorionic gonadotropin suggests evolution of a gene by readthrough into the 3'-untranslated region
6. Crystal structure of human chorionic gonadotropin
7. Localization of the human luteinizing hormone/choriogonadotropin receptor gene (LHCGR) to chromosome 2p21
8. The chromosomal localization of the human follicle-stimulating hormone receptor gene (FSHR) on 2p21-p16 is similar to that of the luteinizing hormone receptor gene
9. Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10
10. Assignment of the human thyroid stimulating hormone receptor (TSHR) gene to chromosome 14q31
11. Localization of human thyrotropin receptor gene to chromosome region 14q3 by in situ hybridization
12. Amino-terminal leucine-rich repeats in gonadotropin receptors determine hormone selectivity
13. The leucine-rich repeat: A versatile binding motif
14. A structuralbasis of the interactions between leucine-rich repeats and protein ligands
15. Model of human chorionic gonadotropin and lutropin receptor interaction that explains signal transduction of the glycoprotein hormones
16. Structural predictions for the ligand-binding region of glycoprotein hormone receptors and the nature of hormone-receptor interactions
17. Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling
18. Structure and functional significance of the carbohydrates of the LH/CG receptor
19. The six N-linked carbohydrates of the lutropin/choriogonadotropin receptor are not absolutely required for correct folding, cell surface expression, hormone binding, or signal transduction
20. Changes in binding activity of luteinizing hormone receptors by site directed mutagenesis of potential glycosylation sites
21. Identification of the sites of N-linked glycosylation on the follicle-stimulating hormone (FSH) receptor and assessment of their role in FSH receptor function
22. Cloning and functional expression of the luteinizing hormone receptor complementary deoxyribonucleic acid from the marmoset monkey testis: Absence of sequences encoding exon 10 in other species
23. The unique exon 10 of the human luteinizing hormone receptor is necessary for expression of the receptor protein at the plasma membrane in the human luteinizing hormone receptor, but deleterious when inserted into the human follicle-stimulating hormone receptor
24. Male hypogonadism caused by homozygous deletion of exon 10 of the luteinizing hormone receptor: Differential action of the luteinizing hormone (LH) and human chrionic gonadotropin (hCG)
25. Exons 1-10 of the rat LH receptor encode a high affinity hormone binding site and exon 11 encodes G-protein modulation and a potential second hormone binding site
26. The C-terminal third of the human luteinizing hormone (LH) receptor is important for inositol phosphate release: Analysis using chimeric human LH/follicle-stimulating hormone receptors
27. Role of the third intracellular loop for the activation of gonadotropin receptors
28. Involvement of Gs and Gi proteins in dual coupling of the luteinizing hormone receptor to adenylyl cyclase and phospholipase C
29. Evidence for dual coupling of the murine luteinizing hormone receptor to adenylyl cyclase and phosphoinositide breakdown and Ca2+ mobilization. Studies with the cloned murine luteinizing hormone receptor expressed in L cells
30. Ca2+ mobilization by the LH receptor expressed in Xenopus oocytes independent of 3',5'-cyclic adenosine monophosphate formation: Evidence for parallel activation of two signaling pathways
31. The luteinizing hormone/chorionic gonadotropin receptor has distinct transmembrane conductors for cAMP and inositol phosphate signals
32. Luteinizing hormone/choriogonadotropin receptor-mediated activation of heterotrimeric guanine nucleotide binding proteins in ovarian follicular membranes
33. Dual signaling potential is common among Gs-coupled receptors and dependent on receptor density
34. Follitropin (FSH) and a phorbol ester stimulate the phosphorylation of the FSH receptor in intact cells
35. Activation of mitogen-activated protein kinases by gonadotropins and cyclic adenosine 5'-monophosphates in porcine granulosa cells
36. Dual coupling and down regulation of human FSH receptor in CHO cells
37. Cellular basis for follicle-stimulating hormone-stimulated calcium signaling in single rat Sertoli cells: Possible dissociation from effects of adenosine 3',5'-monophosphate
38. The relationship between 3',5'-cyclic adenosine monophosphate and calcium in mediating follicle-stimulating hormone signal transduction in Sertoli cells
39. Follicle-stimulating hormone modulation of phosphoinositide turnover in the immature rat Sertoli cell in culture
40. Induction of calcium transport into cultured rat Sertoli cells and liposomes by follicle-stimulating hormone
41. Luteinizing hormone/choriogonadotropin-dependent, chop era toxin-catalyzed adenosine 5'-diphosphate (ADP)-ribosylafion of the long and short forms of Gsα and pertussis toxin-catalyzed ADP-ribosylation of Giα
42. Roles of Gi and Gq/11 in mediating desensitization of the luteinizing hormone/choriogonadotropin receptor in porcine ovarian follicular membranes
43. Desensitization of cultured rat Sertoli cells by follicle-stimulating hormone and by L-isoproterenol
44. Follitropin receptor down-regulation involves a cAMP-dependent post-transcriptional decrease of receptor mRNA expression
45. Effect of lutropin and cycloheximide on lutropin receptors and cyclic AMP production in Leydig tumour cells in vitro
46. Desensitization of tumour Leydig cells by lutropin: Evidence for uncoupling of the lutropin receptor from the guanine nucleotide-binding protein
47. Modulation of cyclic AMP formation and progesterone secretion by human chorionic gonadotropin, epinephrine, buserelin and prostaglandins in normal or human chorionic gonadotropin desensitized rat immature luteal cells in monolayer culture
48. Rabbit follicular adenylyl cyclase activity. II. Gonadotropin-induced desensitization in granulosa cells and follicle shells
49. Aggregation of luteinizing hormone receptors in granulosa cells: A possible mechanism of desensitization to the hormone
50. Granulosa cell desensitization: Effects of gonadotropin on antral and preantral follicles
51. Gonadotropin-induced regulation of luteinizing hormone receptors and desensitization of testicular 3':5'-cyclic AMP and testosterone responses
52. Androgen biosynthesis in Leydig cells after testicular desensitization by luteinizing hormone-releasing hormone and human chorionic gonadotropin
53. FSH-response adenylyl cyclase in rat testes: Desensitization by homologous hormone
54. Adenylyl cyclase activities in ovarian tissues. IV. Gonadotrophin-induced desensitization of the luteal adenylyl cyclase throughout pregnancy and pseudopregnancy in the rabbit and the rat
55. Gonadotropin-induced loss of hormone receptors and desensitization of adenylate cyclase in the ovary
56. Refractoriness of ovarian adenylate cyclase to continued hormonal stimulation
57. Luteinizing hormone receptor in the human corpus luteum: Lack of down-regulation during maternal recognition of pregnancy
58. Fetal testis - A very special endocrine organ
59. hCG binding and stimulation of testosterone biosynthesis in the human fetal testis
60. Differential response of luteinizing hormone receptor and steroidogenic enzyme gene expression to human chorionic gonadotropin stimulation in the neonatal and adult rat testis
61. Follicle-stimulating hormone (FSH) regulates the expression of FSH receptor messenger ribonucleic acid in cultured Sertoli cells and in hypophysectomized rat testis
62. Control of FSH receptor mRNA expression in rat granulosa cells by 3',5'-cyclic adenosine monophosphate, activin, and follistatin
63. Homologous and heterologous ligands downregulate follicle-stimulating hormone receptor mRNA in porcine granulosa cells
64. Hormonal regulation of follicle-stimulating hormone receptor messenger ribonucleic acid levels in cultured rat granulosa cells
65. Transcriptional and post-transcriptional regulation of FSH receptor in rat granulosa cells by cyclic AMP and activin
66. Transcription and post-transcriptional regulation of luteotropin/chorionic gonadotropin receptor by the agonist in Leydig cells
67. Lutropin/choriogonadotropin down-regulates its receptor by both receptor-mediated endocytosis and a cAMP-dependent reduction in receptor mRNA
68. Epidermal growth factor, a phorbol ester, and 3',5'-cyclic adenosine monophosphate decrease the transcription of the luteinizing hormone/chorionic gonadotropin receptor gene in MA-10 Leydig tumor cells
69. Down-regulation of LH/hCG receptor in rat cultured granulosa cells
70. Protein kinases that phosphorylate activated G protein-coupled receptors
71. The role of receptor kinases and arrestins in G protein-coupled receptor regulation
72. Human chorionic gonadotropin (CG)- and phorbol ester-stimulated phosphorylation of the luteinizing hormone/CG receptor maps to serines 635, 639, 649, and 652 in the C-terminal cytoplasmic tail
73. Phosphorylation of the lutropin/choriogonadotropin receptor facilitates uncoupling of the receptor from adenylyl cyclase and endocytosis of the bound hormone
74. The agonist-induced phosphorylation of the rat follitropin receptor maps to the first and third intracellular loops
75. Signaling and phosphorylation-impaired mutants of the rat follitropin receptor reveal an activation- and phosphorylation-independent but arrestin-dependent pathway for internalization
76. Role of G protein-coupled receptor kinases on the agonist-induced phosphorylation and internalization of the follitropin receptor
77. Role of the rate of internalization of the agonist-receptor complex on the agonist-induced down-regulation of the lutropin/choriogonadotropin receptor
78. Involvement of G protein-coupled receptor kinases and arrestins in desensitization to follicle-stimulating hormone action
79. A luteinizing hormone receptor with a severely truncated cytoplasmic tail (LHR-ct628) desensitizes to the same degree as the full-length receptor
80. A direct role for arrestins in desensitization of the luteinizing hormone/choriogonadotropin receptor in porcine ovarian follicular membranes
81. Role of β-arrestin in mediating agonist-promoted G protein-coupled receptor internalization
82. Identification of phosphorylation sites in the G protein-coupled receptor for parathyroid hormone. Receptor phosphorylation is not required for agonist-induced internalization
83. Surface retention of an inactivating lutropin receptor mutant in exoloop 3
84. Identification and cloning of an orphan G protein-coupled receptor of the glycoprotein hormone receptor subfamily
85. Characterization of two LGR genes homologous to gonadotropin and thyrotropin receptors with extracellular leucine-rich repeats and a G protein-coupled, seventransmembrane region
86. The beginning of a new era in reproductive biology and medicine: Expression of low levels of functional luteinizing hormone/human chorionic gonadotropin receptors in nongonadal tissues
87. Expression and functionality of luteinizing hormone/chorionic gonadotropin receptor in the rat prostate
88. Elevated luteinizing hormone induces expression of its receptor and promotes steroidogenesis in the adrenal cortex
89. Cycle dependent LH/hCG receptor gene expression in porcine nongonadal reproductive tissues
90. Luteinizing hormone/human chorionic gonadotropin receptors in breast cancer
91. Mammalian sex determination: A molecular drama
92. Follicle-stimulating hormone receptors appear earlier in the primate fetal testis than in the ovary
93. Hypothalamic-pituitary-gonadal relationships in man from birth to puberty
94. Patterns of pulsatile luteinizing hormone and follicle-stimulating hormone secretion in prepubertal (midchildhood) boys and girls and patients with idiopathic hypogonadotropic hypogonadism (Kallmann's syndrome): A study using an ultrasensitive time-resolved immunofluorometric assay
95. Pattern of the response of testosterone and its precursors to human chorionic gonadotropin stimulation in relation to age in infants and children
96. Treatment of prepubertal gonadotrophin-deficient boys with recombinant human follicle-stimulating hormone
97. Dose and time relationships of intravenously injected rat recombinant luteinizing hormone and testicular testosterone secretion in the male rat
98. Many LH peaks are needed to physiologically stimulate testosterone secretion: Modulation by fasting and NPY
99. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): Pathophysiological and genetic considerations
100. Puberty: Ontogeny, neuroendocrinology, physiology, and disorders
101. The anterior pituitary
102. Thyrotropic action of human chorionic gonadotropin
103. Carbohydrate-deficient glycoprotein syndromes: Inborn errors of protein glycosylation
104. Carbohydrate-deficient glycoprotein syndrome in a girl with hypogonadism due to inactive follicle stimulating hormone
105. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence
106. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome
107. Disorders of the ovary and the female reproductive tract
108. Disorders of the testis and the male reproductive tract
109. Intragonadal regulation of male and female reproduction
110. The gene encoding the common α subunit of the four human glycoprotein hormones
111. A single gonadotropin α-subunit gene in normal tissue and tumor-derived cell lines
112. Segregation patterns of polymorphic restriction sites of the gene encoding the α subunit of human chorionic gonadotropin in trophoblastic disease
113. Expression of chorionic gonadotropin α- and β-genes in normal and neoplastic human tissues: Relationship to deoxyribonucleic acid structure
114. Structural analysis of the polymorphic 3' region of the human chorionic gonadotropin-α gene in normal placenta and choriocarcinoma cells
115. MspI restriction fragment length polymorphism at the glycoprotein hormone α-subunit locus. Association of certain genotypes with neoplasia
116. The human chorionic gonadotrophin α subunit gene in gestational trophoblastic disease. 1. Restriction fragment length polymorphisms in hydatidiform moles
117. A single amino acid substitution in an ectopic α subunit of a human carcinoma choriogonadotropin
118. Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone
119. Genetic polymorphism found in the LH β gene of an immunologically anomalous variant of human luteinizing hormone
120. Identification of two point mutations in the gene coding luteinizing hormone (LH) β-subunit, associated with immunologically anomalous LH variants
121. Identification of seven novel mutations in LH β-subunit gene by SSCP
122. A naturally occurring genetic variant in the human chorionic gonadotropin-β gene 5 is assembly inefficient
123. Primary amenorrhoea and infertility due to a mutation in the β-subunit of follicle-stimulating hormone
124. Isolated deficiency of follicle-stimulating hormone re-revisited
125. Male hypogonadism due to a mutation in the gene for the β-subunit of follicle-stimulating hormone
126. Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone β-subunit gene
127. Follitropin (FSH) deficiency in an infertile male due to FSHβ gene mutation. A syndrome of normal puberty and virilization but underdeveloped testicles with azoospermia, low FSH but high lutropin and normal serum testosterone concentrations
128. Targeted disruption of the pituitary glycoprotein hormone α-subunit produces hypogonadal and hypothyroid mice
129. Hypogonadism in a male with immunologically active, biologically inactive luteinizing hormone: An exception to a venerable rule
130. Hypogonadism in a male with an immunologically active, biologically inactive luteinizing hormone: Characterization of the abnormal hormone
131. Human luteinizing hormone. The amino acid sequence of the subunit
132. Determination of hormones by time-resolved fluoroimmunoassay
133. Ultrasensitive two-site immunometric assay of human lutropin by time-resolved fluorometry
134. An immunologically anomalous luteinizing hormone variant in a healthy woman
135. Determination of a common genetic variant of luteinizing hormone using DNA hybridization and immunoassays
136. Antigenic alteration of an anomalous human luteinizing hormone caused by two chorionic gonadotropin-type amino-acid substitutions
137. Occurrence and biological properties of a common genetic variant of luteinizing hormone
138. Evolution of the genes for the β subunits of human chorionic gonadotropin and luteinizing hormone
139. Effects of the mutations (Trp8 → Arg and Ile15 → Thr) in human luteinizing hormone (LH) β-subunit on LH bioactivity in vitro and in vivo
140. Worldwide frequency of a common genetic variant of luteinizing hormone: An international collaborative research. International Collaborative Research Group
141. Role of the mutations Trp8 => Arg and Ile15 = > Thr of the human luteinizing hormone β-subunit in women with polycystic ovary syndrome
142. Molecular variants of luteinizing hormone in three populations of Southeast Asia
143. Increased prevalence of luteinizing hormone β-subunit variant in Japanese infertility patients
144. Genetic variant of luteinizing hormone in Czech Republic
145. A common polymorphic allele of the human luteinizing hormone beta-subunit gene: Additional mutations and differential function of the promoter sequence
146. Screening of the mutations in luteinizing hormone β-subunit in patients with menstrual disorders
147. Increased prevalence of luteinizing hormone β-subunit variant in patients with premature ovarian failure
148. Prevalence of an immunological LH β-subunit variant in a UK population of healthy women and women with polycystic ovary syndrome
149. A new contributing factor to polycystic ovary syndrome: The genetic variant of luteinizing hormone
150. Luteinizing hormone and different genetic variants, as indicators of frailty in healthy elderly men
151. Genetic variant of luteinizing hormone in women with a history of recurrent miscarriage
152. Molecular mysteries of polycystic ovary syndrome
153. Diagnostic difficulty in polycystic ovary syndrome due to an LH-β-subunit variant
154. The role of luteinizing hormone-β gene polymorphism in the onset and progression of puberty in healthy boys
155. A new molecular variant of luteinizing hormone associated with female infertility
156. Identification of restriction-fragment length polymorphisms for the human chorionic gonadotropin-ν/luteinizing hormone-β gene cluster
157. Human chorionic gonadotrophln-β gene sequences in women with disorders of HCG production
158. Human chorionic gonadotropin-β gene expression in first trimester placenta
159. Isolated deficiency of follicle-stimulating hormone. Clinical and laboratory features
160. Isolated follicle-stimulating hormone deficiency revisited. Ovulation and conception in presence of circulating antibody to follicle-stimulating hormone
161. Isolated deficiency of follicle-stimulating hormone: Further studies
162. Fall av manlig infertilitet
163. Kinetics of folding and assembly of the human chorionic gonadotropin β subunit in transfected Chinese hamster ovary cells
164. Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility
165. Dysfunction of the neuroendocrine system in nine males with aspermia
166. Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels
167. Isolated follicle-stimulating hormone deficiency in a woman with X chromosomal mosaicism
168. Clinical studies in an adult male patient with 'isolated follicle stimulating hormone (FSH) deficiency'
169. Isolated FSH deficiency in a male
170. Isolated follicle-stimulating hormone deficiency in man
171. Clomiphene in treatment of male infertility due to isolated follicle-stimulating-hormone deficiency
172. Isolated FSH deficiency in a male. A case report
173. Isolated follicle-stimulating hormone deficiency in men: Successful longterm gonadotropin therapy
174. Isolated deficiency of follicle-stimulating hormone in man: A case report and literature review
175. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
176. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
177. Testicular Leydig cell hyperplasia as a cause of familial sexual precocity
178. Gonadotropin-independent familial sexual precocity with premature Leydig and germinal cell maturation (familial testotoxicosis): Effects of a potent luteinizing hormone-releasing factor agonist and medroxyprogesterone acetate therapy in four cases
179. Pseudo-precocious puberty caused by bilateral idiopathic testicular hyperplasia
180. Pituitary gonadotropin-independent male-limited autosoreal dominant sexual precocity in nine generations: Familial testotoxicosis
181. Male-limited familial precocious puberty in three generations. Apparent Leydig-cell autonomy and elevated glycoprotein hormone a subunit
182. Puberty without gonadotropins. A unique mechanism of sexual development
183. A novel testis-stimulating factor in familial male precocious puberty
184. Constitutive activation of the α1B-adrenergic receptor by all amino acid substitutions at a single site. Evidence for a region which constrains receptor activation
185. Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function
186. Structure of the human luteinizing hormone-choriogonadotropm receptor gene: Unusual promoter and 5' non-coding regions
187. A novel human luteinizing hormone receptor gene
188. Polymorphisms in the coding exons of the human luteinizing hormone receptor gene. Mutations in brief no. 124. Online
189. Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty
190. A new point mutation in the luteinising hormone receptor genem familial and sporadic male limited precocious puberty: Genotype does not always correlate with phenotype
191. Inactivation of the luteinizing hormone/chorionic gonadotropin receptor by an insertional mutation in Leydig cell hypoplasia
192. Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
193. Male pseudohermaphroditism due to an inactivating mutation in the extracellular domain of the luteinizing hormone receptor
194. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
195. A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters
196. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
197. Brief report: Testicular and ovarian resistance to luteinizing hormone caused by inactivating mutations of the luteinizing hormone-receptor gene
198. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
199. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female
200. A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor
201. A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: Correlation between receptor activity and phenotype
202. A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty
203. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty
204. A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene
205. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty
206. A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty
207. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty
208. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty
209. Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
210. A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty
211. Identification of constitutively activating mutation of the luteinising hormone receptor in a family With male limited gonadotrophin independent precocious puberty (testotoxicosis)
212. A sporadic case of male-limited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases
213. A missense (T577I) mutation in the luteinizing hormone receptor gene associated with familial male-limited precocious puberty
214. Severe testotoxicosis phenotype associated with Asp578->Tyr mutation of the lutrophin/choriogonadotrophin receptor gene
215. A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: Effect of the size of a critical amino acid on receptor activity
216. Leydig-cell tumors caused by an activating mutation of the gene encoding the luteinizing hormone receptor
217. Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: Identification and characterization of two discrete FSH receptor isoforms
218. No evidence of the inactivating mutation (C566T) in the follicle-stimulating hormone receptor gene in Brazilian women with premature ovarian failure
219. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure
220. Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene
221. A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor
222. Functional and clinical consequences of mutations in the FSH receptor
223. The follicle-stimulating hormone receptor: Biochemistry, molecular biology, physiology, and pathophysiology
224. New natural inactivating mutations of the follicle-stimulating hormone receptor: Correlations between receptor function and phenotype
225. An activating mutation of the follicle-stimulating hormone receptor autonomously sustains spermatogenesis in a hypophysectomized man
226. Characterization of several clonal lines of cultured Leydig tumor cells: Gonadotropin receptors and steroidogenic responses
227. Luteinizing hormone receptor mutations and sex differentiation
228. Somatic mutations in the thyrotropin receptor gene and not in the Gs α protein gene in 31 toxic thyroid nodules
229. Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor
230. The extracellular thyrotropin receptor domain is not a major candidate for mutations in toxic thyroid nodules
231. Post-translational processing in the Golgi plays a critical role in the trafficking of the luteinizing hormone/human chorionic gonadotropin receptor to the cell surface
232. Mutations that induce constitutive activation and mutations that impair signal transduction modulate the basal and/or agoniststimulated internalization of the lutropin/choriogonadotropin receptor
233. Evidence that constitutively active luteinizing hormone/human chorionic gonadotropin receptors are rapidly internalized
234. Constitutive activation and signaling impairment of leucine 460 mutations in transmembrane helix 3 of the human FSH receptor
235. Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs
236. A model of the lutropin/choriogonadotropin receptor: Insights into the structural and functional effects of constitutively activating mutations
237. Theoretical study on mutation-induced activation of the luteinizing hormone receptor
238. A mutation-induced activated state of the β2-adrenergic receptor. Extending the ternary complex model
239. Correlation of protein kinase activation and testosterone production after stimulation of Leydig cells with luteinizing hormone
240. Intermediate role of adenosine 3':5'-cyclic monophosphate and protein kinase during gonadotropin-induced steroidogenesis in testicular interstitial cells
241. Gonadotropin binding and stimulation of cyclic adenosine 3':5'-monophosphate and testosterone production in isolated Leydig cells
242. Hormonal activation of protein kinase in isolated Leydig cells. Electrophoretic analysis of cyclic AMP receptors
243. Inhibition of choriogonadotropin-activated steroidogenesis in cultured Leydig tumor cells by the Rp diastereoisomer of adenosine 3',5'-cyclic phosphorothioate
244. Hazards of ketoconazole therapy in testotoxicosis
245. The role of Asp578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor
246. Current concepts of the roles of follicle stimulating hormone and luteinizing hormone in folliculogenesis
247. Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor-a clinical research center study
248. Leydig-cell agenesis: A cause of male pseudohermaphroditism
249. Leydig cell hypoplasia: A cause of male pseudohermaphroditism
250. Leydig cell hypofunction resulting in male pseudohermaphroditism
251. Hypogonadism and Leydig cell hypoplasia unresponsive to human luteinizing hormone (hLH)
252. Leydig cell hypoplasia causing male pseudohermaphroditism: Diagnosis 13 years after prepubertal castration
253. Male pseudohermaphroditism resulting from Leydig cell hypoplasia
254. Inherited male pseudohermaphroditism due to gonadotrophin unresponsiveness
255. Familial Leydig cell hypoplasia as a cause of male pseudohermaphroditism
256. A clinico-genetic investigation of Leydig cell hypoplasia
257. Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation
258. A syndrome of gonadotropin resistance possibly due to a luteinizing hormone receptor defect
259. Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors
260. Leydig cell hypoplasia determining familial hypergonadotropic hypogonadism
261. Leydig cell hypoplasia leading to two different phenotypes: Male pseudohermaphroditism and primary hypogonadism not associated with this
262. Cloning and sequencing of human LH/hCG receptor cDNA
263. Evidences for an allelic variant of the human LC/CG receptor rather than a gene duplication: Functional comparison of wild-type and variant receptors
264. Genomic distribution and gonadal mRNA expression of two human luteinizing hormone receptor exon 1 sequences in random populations
265. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13
266. Identification of two amino acid residues on the extracellular domain of the lutropin/choriogonadotropin receptor important in signaling
267. Characterization of a region of the lutropin receptor extracellular domain near transmembrane helix 1 that is important in ligand-mediated signaling
268. Inactivating mutations of the LH receptor gene: More than two different phenotypes
269. Response to letter to Clinical Endocrinology (Oxf.) by S.P.A. Toledo
270. The cell biology and function of the fetal Leydig cell
271. Fetal development of Leydig cell activity in the mouse is independent of pituitary gonadotroph function
272. Evidence for genetic heterogeneity in male pseudohermaphroditism due to Leydig cell hypoplasia
273. The follicle-stimulating hormone receptor gene is polymorphic in premature ovarian failure and normal controls
274. Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea
275. Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome
276. A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors
277. Absence of mutations in the FSH receptor in ovarian granulosa cell tumors
278. No evidence of a role for mutations or polymorphisms of the follicle-stimulating hormone receptor in ovarian granulosa cell tumors
279. Analysis of mutations in genes of the follicle-stimulating hormone receptor Signaling pathway in ovarian granulosa cell tumors
280. Disease gene mapping in isolated human populations: The example of Finland
281. The genetics of XX gonadal dysgenesis
282. Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene
283. Is FSH required for adult spermatogenesis?
284. Regulation of spermatogenesis
285. The frequency of an inactivating point mutation (566C->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry
286. The Finnish follicle-stimulating hormone receptor gene mutation is rare in North American women with 46,XX ovarian failure
287. Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop
288. Impairing follicle-stimulating hormone (FSH) signaling in vivo: Targeted disruption of the FSH receptor leads to aberrant gametogenesis and hormonal imbalance
289. Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility
290. Factors in the causation and incidence of ovarian cancer
291. Polycystic ovary syndrome: A changing perspective
292. Luteinizing hormone: Its role, mechanism of action, and detrimental effects when hypersecreted during the follicular phase
293. Targeted overexpression of luteinizing hormone in transgenic mice leads to infertility, polycystic ovaries, and ovarian tumors
294. Gonadal tumorigenesis in transgenic mice bearing the mouse inhibin α-subunit promoter/simian virus T-antigen fusion gene: Characterization of ovarian tumors and establishment of gonadotropin-responsive granulosa cell lines
295. The mouse inhibin α-subunit promoter directs SV40 T-antigen to Leydig cells in transgenic mice
296. α-Inhibin is a tumour-suppressor gene with gonadal specificity in mice
297. Hypo- and hyperthyroidism caused by mutations of the TSH receptor
298. Gonadotrope-specific expression of the human follicle-stimulating
299. Gonadotropins are essential modifier factors for gonadal tumor development in inhibin-deficient mice
300. Genetic rescue of follicle-stimulating hormone β-deficient mice
301. Transgenic models to study gonadotropin function: The role of follicle-stimulating hormone in gonadal growth and tumorigenesis
302. Leydig cells: Endocrine, paracrine, and autocrine regulation
303. Gonadotroph adenomas in men produce biologically active follicle-stimulating hormone
304. Undetected gynaecological disorders in women with renal disease
305. Severe ovarian hyperstimulation syndrome: Serum and ascitic fluid concentrations of vascular endothelial growth factor
306. Gonadotroph adenoma in a premenopausal woman secreting follicle-stimulating hormone and causing ovarian hyperstimulation
307. Determinants of ovarian cancer risk. II. Inferences regarding pathogenesis
308. Gonadectomy permits adrenocortical tumorigenesis in mice transgenic for the mouse inhibin α-subunit promoter/simian virus 40 T-antigen fusion gene: Evidence for negative autoregulation of the inhibin α-subunit gene
309. Suppression of gonadotropins inhibits gonadal tumorigenesis in mice transgenic for the mouse inhibin α-subunit promoter/simian virus 40 T-antigen fusion gene
310. Direct luteinizing hormone action triggers adrenocortical tumorigenesis in castrated mice transgenic for the murine inhibin α-subunit promoter/simian virus 40 T-antigen fusion gene
311. Mouse mutants as models in endocrine research
312. Gonadotropin-independent regulation of steroidogenesis in the fetal rat testis
313. The T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary
314. The effect of a null mutation in the FSH receptor gene on mouse reproduction
315. The role of follicle-stimulating hormone in controlling Sertoli cell proliferation in testes of fetal rats
316. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
317. Activating mutation of the stimulatory G protein (gsp) as a putative cause of ovarian and testicular human stromal Leydig cell tumors
318. Novel molecular mediators in the pathway connecting G-protein-coupled receptors to MAP kinase cascades
319. Regulation of tyrosine kinase cascades by G-protein-coupled receptors
320. G-protein-coupled receptors and their regulation: Activation of the MAP kinase signaling pathway by G-protein-coupled receptors
321. Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor
322. Regulation of gonadotropin receptor gene expression
323. Regulation of the FSH receptor in the ovary
324. Functional LH receptor appears in the neonatal rat ovary after changes in the alternative splicing pattern of the LH receptor mRNA
325. Alternative splicing of follicle-stimulating hormone receptor premRNA: Cloning and characterization of two alternatively spliced mRNA transcripts
326. Follitropin signal transduction: Alternative splicing of the FSH receptor gene produces a dominant negative form of receptor which inhibits hormone action
327. Discrete splicing alternatives in mRNA encoding the extracellular domain of the testis ESH receptor in the normal and hypogonadal (hpg) mouse
328. Molecular cloning of a truncated isoform of the human follicle stimulating hormone receptor
329. The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells
330. The LH/CG and FSH receptors: Different molecular forms and intracellular traffic
331. Expression of the LH/CG receptor gene in rat ovarian tissue is regulated by an extensive alternative splicing of the primary transcript
332. Intronic nature of the rat luteinizing hormone receptor gene defines a soluble receptor subspecies with hormone binding activity
333. Cloning and sequencing of porcine LH-hCG receptor cDNA: Variants lacking transmembrane domain
334. Characterization and relative abundance of alternatively spliced luteinizing hormone receptor messenger ribonucleic acid in the ovine ovary