The molecular control of upper extremity development: Implications for congenital hand anomalies

Journal of Hand Surgery

Volumn 26, Issue 1, 2001, Pages 8-22

  Daluiski, Aaron ^a   Yi, Soyun E ^a   Lyons, Karen M ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Limb development; Molecular biology

Indexed keywords

BONE MORPHOGENETIC PROTEIN; FIBROBLAST GROWTH FACTOR; GROWTH FACTOR; HOMEODOMAIN PROTEIN; LIGAND; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; BRACHYDACTYLY; CHICKEN; CLINICAL FEATURE; ECTODERM; EMBRYO; GENE EXPRESSION; GENE MUTATION; HAND; HAND MALFORMATION; HOMEOBOX; HUMAN; LIMB BUD; LIMB DEVELOPMENT; MOUSE; NONHUMAN; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN EXPRESSION; RADIOULNAR JOINT; SYNDACTYLY;

EID: 0035146872     PISSN: 03635023     EISSN: None     Source Type: Journal    
DOI: 10.1053/jhsu.2001.9419     Document Type: Article

References (100)

1. Genetics of limb development and congenital hand malformations
2. A classification for congenital limb malformations
3. The proposed international terminology for the classification of congenital limb deficiencies
4. Classification of limb malformations on the basis of embryological failures
5. Development of the upper limb
6. Molecular basis of limb development
7. FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb
8. FGF-4 expression during gastrulation, myogenesis, limb and tooth development in the mouse
9. Involvement of FGF-8 in initiation, outgrowth and patterning of the vertebrate limb
10. FGF-2: Apical ectodermal ridge growth signal for chick limb development
11. Fgf10 is essential for limb and lung formation
12. Genetics and limb development
13. The number of polarizing region cells required to specify additional digits in the developing chick wing
14. Sonic hedge-hog mediates the polarizing activity of the ZPA
15. A duplicated zone of polarizing activity in polydactylous mouse mutants
16. Surgical removal of limb bud Sonic hedgehog results in posterior skeletal defects
17. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
18. Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud
19. A positive feedback loop coordinates growth and patterning in the vertebrate limb
20. Molecular models for vertebrate limb development
21. Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb
22. Limb and kidney defects in Lmx lb mutant mice suggest an involvement of LMX1B in human nail patella syndrome
23. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
24. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb
25. Analysis of the genetic pathway leading to formation of ectopic apical ectodermal ridges in mouse Engrailed-1 mutant limbs
26. The mouse Engrailed-1 gene and ventral limb patterning
27. Interaction between the signaling molecules WNT7a and SHH during vertebrate limb development: Dorsal signals regulate anteroposterior patterning
28. Mechanisms of limb patterning
29. The molecular basis of hypodactyly (Hd): A deletion in Hoxa13 leads to arrest of digital arch formation
30. Analysis of Hox gene expression in the chick limb bud
31. Retinoids, homeoboxes, and growth factors: Toward molecular models for limb development
32. Regulation of number and size of digits by posterior Hox genes: A dose-dependent mechanism with potential evolutionary implications
33. Why we have (only) five fingers per hand: Hox genes and the evolution of paired limbs
34. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
35. Synpolydactyly in mice with a targeted deficiency in the HoxD complex
36. A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye
37. BMP-7 is an inducer of nephrogenesis, and is also required for eye development and skeletal patterning
38. Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development
39. Evidence for genetic control of Sonic hedgehog by GLI3 in mouse limb development
40. J mutation contains an intragenic deletion of the Gli3 gene
41. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
42. Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt)
43. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
44. Point mutations in h man GLI3 cause Greig syndrome
45. Sequential changes of programmed cell death in developing fetal mouse limbs and its possible roles in limb morphogenesis
46. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
47. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
48. Mutation detection in FGFR2 craniosynostosis syndromes
49. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
50. Jackson-Weiss syndrome: Identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders
51. Ectopic expression of Msx-2 in posterior limb bud mesoderm impairs limb morphogenesis while inducing BMP-4 expression, inhibiting cell proliferation, and promoting apoptosis
52. Msx2 is a transcriptional regulator in the BMP4-mediated programmed cell death pathway
53. Expression and function of gdf-5 during digit skeletogenesis in the embryonic chick leg bud
54. Limb alterations in brachypodism mice due to mutations in a new member of the TGFβ-super-family
55. Mutations in CDMP1 cause autosomal dominant brachydactyly type C
56. Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1
57. The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb
58. Combinatorial signaling through BMP receptor IB and GDF5: Shaping of the distal mouse limb and the genetics of distal limb diversity
59. Enhanced tendon healing with GDF 5 and 6
60. Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-β gene family
61. The T-box genes Tbx4 and Tbx5 regulate limb outgrowth and identity
62. Tbx5 and Tbx4 genes determine the wing/leg identity of limb buds
63. Role of Pitx1 upstream of Tbx4 in specification of hindlimb identity
64. Role of the Bicoid-related homeodomain factor Pitx 1 in specifying hindlimb morphogenesis and pituitary development
65. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
66. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome
67. Distal metaphyseal tibial non-unions associated with significant bowing deformity and cortical bone loss: Treatment with human bone morphogenetic protein (h-BMP) and internal fixation
68. Distal metaphyseal tibial nonunion: Deformity and bone loss treated by open reduction, internal fixation, and human bone morphogenetic protein (hBMP)
69. Resistant non-unions and partial or complete segmental defects of long bones: Treatment with implants of a composite of human bone morphogenetic protein (BMP) and autolyzed, anti-gen-extracted, allogeneic (AAA) bone
70. Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling
71. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton
72. Correlation of expression of Wnt-l in developing limbs with abnormalities n growth and skeletal patterning
73. Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case
74. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
75. Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome
76. Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
77. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
78. Mutation of HOXA13 in hand-foot-genital syndrome
79. Ectopic expression of Hoxb-8 causes duplication of the ZPA in the forelimb and homeotic transformation of axial structures
80. Hoxd-12 differentially affects preaxial and postaxial chondrogenic branches in the limb and regulates Sonic hedgehog in a positive feedback loop
81. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families
82. A new spontaneous mouse mutation of Ho xd13 with a polyalanine expansion and phenotype similar to human synpolydactyly
83. Early specification of limb muscle precursor cells by the homeobox gene Lbx1h
84. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
85. Inhibition of NE-kappaB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis
86. P63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
87. P63 is a p53 homologue required for limb and epidermal morphogenesis
88. Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities
89. Hindlimb patterning and mandible development require the Ptx1 gene
90. Prx1 and Prx2 in skeletogenesis roles in the craniofacial region, inner ear and limbs
91. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
92. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
93. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
94. Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
95. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
96. Mutations of the TWIST gene in the Saethre-Chotzen syndrome
97. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations
98. Gap junction signalling mediated through connexin-43 is required for chick limb development
99. Postaxial polydactyly in forelimbs of CRABP-II mutant mice
100. Mice lacking link protein develop dwarfism and craniofacial abnormalities