-
1
-
-
2942618679
-
GLI2 is expressed in normal human epidermis and BCC and induces GLI1 expression by binding to its promoter
-
Ikram, M.S., Neill, G.W., Regl, G., et al,. (2004) GLI2 is expressed in normal human epidermis and BCC and induces GLI1 expression by binding to its promoter. Journal of Investigative Dermatology, 122, 1503-1509.
-
(2004)
Journal of Investigative Dermatology
, vol.122
, pp. 1503-1509
-
-
Ikram, M.S.1
Neill, G.W.2
Regl, G.3
-
2
-
-
0033558211
-
Comparative synteny cloning of zebrafish you-too: Mutations in the hedgehog target gli2 affect ventral forebrain patterning
-
Kalstrom, R.O., Talbot, W.S., &, Shier, A.F., (1999) Comparative synteny cloning of zebrafish you-too: mutations in the hedgehog target gli2 affect ventral forebrain patterning. Genes & Development, 13, 388-393.
-
(1999)
Genes & Development
, vol.13
, pp. 388-393
-
-
Kalstrom, R.O.1
Talbot, W.S.2
Shier, A.F.3
-
3
-
-
79953318203
-
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2
-
Wannasilp, N., Solomon, B.D., Warren-Mora, N., et al,. (2011) Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2. American Journal of Medical Genetics, 155A, 860-864.
-
(2011)
American Journal of Medical Genetics
, vol.155 A
, pp. 860-864
-
-
Wannasilp, N.1
Solomon, B.D.2
Warren-Mora, N.3
-
4
-
-
76149126464
-
Management of children with holoprsencephaly
-
Levey, E.B., Stashinko, E., Clegg, N.J., et al,. (2010) Management of children with holoprsencephaly. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 154C, 183-190.
-
(2010)
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
, vol.154 C
, pp. 183-190
-
-
Levey, E.B.1
Stashinko, E.2
Clegg, N.J.3
-
5
-
-
84867185965
-
-
GeneReviews NBK1530; PMID 20301702
-
Solomon, B.D., Gropman, A., &, Muenke, M., (2000) Holoprosencephaly overview. GeneReviews NBK1530; PMID 20301702.
-
(2000)
Holoprosencephaly Overview
-
-
Solomon, B.D.1
Gropman, A.2
Muenke, M.3
-
6
-
-
78349305842
-
Direct and indirect requirements of Shh/Gli signalling in early pituitary development
-
Wang, Y., Martin, J.F., &, Bai, C.B., (2010) Direct and indirect requirements of Shh/Gli signalling in early pituitary development. Developmental Biology, 348, 199-209.
-
(2010)
Developmental Biology
, vol.348
, pp. 199-209
-
-
Wang, Y.1
Martin, J.F.2
Bai, C.B.3
-
7
-
-
0344392285
-
Loss of function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
-
Roessler, E., Du, Y.Z., Mullor, J.L., et al,. (2003) Loss of function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proceedings of the National Academy of Sciences, USA 100, 13424-13429.
-
(2003)
Proceedings of the National Academy of Sciences, USA
, vol.100
, pp. 13424-13429
-
-
Roessler, E.1
Du, Y.Z.2
Mullor, J.L.3
-
8
-
-
73249143539
-
Genetic regulation of pituitary gland development in human and mouse
-
Kelberman, D., Rizzoti, K., Lovell-Badge, R., et al,. (2009) Genetic regulation of pituitary gland development in human and mouse. Endocrine Reviews, 30, 790-829.
-
(2009)
Endocrine Reviews
, vol.30
, pp. 790-829
-
-
Kelberman, D.1
Rizzoti, K.2
Lovell-Badge, R.3
-
9
-
-
78049517995
-
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly
-
França, M.M., Jorge, A.A., Carvalho, L.R., et al,. (2010) Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. Journal of Clinical Endocrinology and Metabolism, 95, E384-E391.
-
(2010)
Journal of Clinical Endocrinology and Metabolism
, vol.95
, pp. E384-E391
-
-
França, M.M.1
Jorge, A.A.2
Carvalho, L.R.3
-
10
-
-
84874833350
-
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency
-
Flemming, G.M.C., Klammt, J., Ambler, G., et al,. (2013) Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 98, E567-E575.
-
(2013)
Journal of Clinical Endocrinology and Metabolism
, vol.98
, pp. E567-E575
-
-
Flemming, G.M.C.1
Klammt, J.2
Ambler, G.3
-
11
-
-
84901473756
-
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly
-
Bear, K.A., Solomon, B.D., Antonini, S., et al,. (2014) Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of Medical Genetics, 51, 413-418.
-
(2014)
Journal of Medical Genetics
, vol.51
, pp. 413-418
-
-
Bear, K.A.1
Solomon, B.D.2
Antonini, S.3
-
12
-
-
19444386836
-
Genetic control of pituitary development and hypopituitarism
-
Zhu, X., Lin, C.R., Prefontaine, G.G., et al,. (2005) Genetic control of pituitary development and hypopituitarism. Current Opinion in Genetics & Development, 15, 332-340.
-
(2005)
Current Opinion in Genetics & Development
, vol.15
, pp. 332-340
-
-
Zhu, X.1
Lin, C.R.2
Prefontaine, G.G.3
-
13
-
-
55049108856
-
Regulation of a remote sonic hedgehog forebrain enhancer by the six3 homeoprotein
-
Jeong, Y., Leskow, F.C., El-Jaick, K., et al,. (2008) Regulation of a remote sonic hedgehog forebrain enhancer by the six3 homeoprotein. Nature Genetics, 40, 1348-1353.
-
(2008)
Nature Genetics
, vol.40
, pp. 1348-1353
-
-
Jeong, Y.1
Leskow, F.C.2
El-Jaick, K.3
-
14
-
-
84856691900
-
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH
-
Pineda-Alvarez, D.E., Roessler, E., Hu, P., et al,. (2012) Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH. Human Genetics, 131, 301-310.
-
(2012)
Human Genetics
, vol.131
, pp. 301-310
-
-
Pineda-Alvarez, D.E.1
Roessler, E.2
Hu, P.3
-
15
-
-
34249904447
-
Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog
-
Seppala, M., Depew, M.J., Martinelli, D.C., et al,. (2007) Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog. Journal of Clinical Investigation, 117, 1575-1584.
-
(2007)
Journal of Clinical Investigation
, vol.117
, pp. 1575-1584
-
-
Seppala, M.1
Depew, M.J.2
Martinelli, D.C.3
-
16
-
-
77954129042
-
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
-
Ribeiro, L.A., Quiezi, R.G., Nascimento, A., et al,. (2010) Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: report of four Brazilian patients. American Journal of Medical Genetics. Part A, 152A, 1688-1694.
-
(2010)
American Journal of Medical Genetics. Part A
, vol.152 A
, pp. 1688-1694
-
-
Ribeiro, L.A.1
Quiezi, R.G.2
Nascimento, A.3
-
17
-
-
0032848136
-
Regulation of Gli2 and Gli3 activates by an amino-terminal repression domain: Implication of Gli2 and Gli3 as primary mediators of Shh signalling
-
Sasaki, H., Nishizaki, Y., Hui, C., et al,. (1999) Regulation of Gli2 and Gli3 activates by an amino-terminal repression domain: implication of Gli2 and Gli3 as primary mediators of Shh signalling. Development, 126, 3915-3924.
-
(1999)
Development
, vol.126
, pp. 3915-3924
-
-
Sasaki, H.1
Nishizaki, Y.2
Hui, C.3
-
18
-
-
84885483275
-
Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer
-
Himeda, C.L., Barro, M.V., &, Emerson, C.P. Jr, (2013) Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer. Developmental Biology, 383, 7-14.
-
(2013)
Developmental Biology
, vol.383
, pp. 7-14
-
-
Himeda, C.L.1
Barro, M.V.2
Emerson, Jr.C.P.3
-
19
-
-
79960973767
-
Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans
-
Gaston-Massuet, C., Andoniadou, C.L., Signore, M., et al,. (2011) Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proceedings of the National Academy of Sciences of the United States of America, 108, 11482-11487.
-
(2011)
Proceedings of the National Academy of Sciences of the United States of America
, vol.108
, pp. 11482-11487
-
-
Gaston-Massuet, C.1
Andoniadou, C.L.2
Signore, M.3
-
20
-
-
84885133119
-
Sox2(+) stem/progenitor cells in the adult mouse pituitary support organ homeostasis and have tumor-inducing potential
-
Andoniadou, C.L., Matsushima, D., Mousavy Gharavy, S.N., et al,. (2013) Sox2(+) stem/progenitor cells in the adult mouse pituitary support organ homeostasis and have tumor-inducing potential. Cell Stem Cell 13, 433-445.
-
(2013)
Cell Stem Cell
, vol.13
, pp. 433-445
-
-
Andoniadou, C.L.1
Matsushima, D.2
Mousavy Gharavy, S.N.3
-
21
-
-
0031020221
-
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development
-
Mo, R., Freer, A.M., Zinyk, D.L., et al,. (1997) Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development. Development, 124, 113-123.
-
(1997)
Development
, vol.124
, pp. 113-123
-
-
Mo, R.1
Freer, A.M.2
Zinyk, D.L.3
-
22
-
-
83355172819
-
Clinical findings in patients with GLI2 mutations-phenotypic variability
-
Bertolacini, C.D., Ribeiro-Bicudo, L.A., Petrin, A., et al,. (2010) Clinical findings in patients with GLI2 mutations-phenotypic variability. Clinical Genetics, 81, 70-75.
-
(2010)
Clinical Genetics
, vol.81
, pp. 70-75
-
-
Bertolacini, C.D.1
Ribeiro-Bicudo, L.A.2
Petrin, A.3
-
23
-
-
34547774226
-
A new locus for split hand/foot formation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation
-
Babbs, C., Heller, R., Everman, D.B., et al,. (2007) A new locus for split hand/foot formation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Human Genetics, 122, 191-199.
-
(2007)
Human Genetics
, vol.122
, pp. 191-199
-
-
Babbs, C.1
Heller, R.2
Everman, D.B.3
-
24
-
-
26444577884
-
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2
-
Roessler, E., Ermilov, A.N., Grange, D.K., et al,. (2005) A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Human Molecular Genetics, 14, 2181-2188.
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 2181-2188
-
-
Roessler, E.1
Ermilov, A.N.2
Grange, D.K.3
-
25
-
-
80053551866
-
Novel FGF8 mutations associated with recessive holoprosencephaly craniofacial defects and hypothalamo-pituitary dysfunction
-
McCabe, M.J., Gaston-Massuet, C., Tziaferi, V., et al,. (2011) Novel FGF8 mutations associated with recessive holoprosencephaly craniofacial defects and hypothalamo-pituitary dysfunction. Journal of Clinical Endocrinology and Metabolism, 96, E1709-E1718.
-
(2011)
Journal of Clinical Endocrinology and Metabolism
, vol.96
, pp. E1709-E1718
-
-
McCabe, M.J.1
Gaston-Massuet, C.2
Tziaferi, V.3
-
26
-
-
0344678385
-
Expression of the Sonic Hedgehog (SHH) gene in early human development and phenotypic expression of new mutations causing holoprosencephaly
-
Odent, S., Atti-Bitach, T., Blayau, M., et al,. (1999) Expression of the Sonic Hedgehog (SHH) gene in early human development and phenotypic expression of new mutations causing holoprosencephaly. Human Molecular Genetics, 8, 1683-1689.
-
(1999)
Human Molecular Genetics
, vol.8
, pp. 1683-1689
-
-
Odent, S.1
Atti-Bitach, T.2
Blayau, M.3
-
27
-
-
84867487106
-
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: New evidence for haploinsufficiency as a disease mechanism
-
Narumi, S., Araki, S., Hori, N., et al,. (2012) Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism. European Journal of Endocrinology, 167, 625-632.
-
(2012)
European Journal of Endocrinology
, vol.167
, pp. 625-632
-
-
Narumi, S.1
Araki, S.2
Hori, N.3
-
28
-
-
33645225908
-
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
-
Chassaing, N., Bourthoumieu, S., Cossee, M., et al,. (2006) Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Human Mutation, 27, 255-259.
-
(2006)
Human Mutation
, vol.27
, pp. 255-259
-
-
Chassaing, N.1
Bourthoumieu, S.2
Cossee, M.3
-
30
-
-
78650815584
-
CFC1 mutations in Chinese children with congenital heart disease
-
Wang, B., Wang, J., Liu, S., et al,. (2011) CFC1 mutations in Chinese children with congenital heart disease. International Journal of Cardiology, 146, 86-88.
-
(2011)
International Journal of Cardiology
, vol.146
, pp. 86-88
-
-
Wang, B.1
Wang, J.2
Liu, S.3
-
31
-
-
84875198317
-
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
-
França, M.M., Jorge, A.A., Carvalho, L.R., et al,. (2013) Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. Clinical Endocrinology, 78, 551-557.
-
(2013)
Clinical Endocrinology
, vol.78
, pp. 551-557
-
-
França, M.M.1
Jorge, A.A.2
Carvalho, L.R.3
-
32
-
-
0028281306
-
Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development
-
Hui, C.C., Slusarski, D., Platt, K.A., et al,. (1994) Expression of three mouse homologs of the Drosophila segment polarity gene cubitus interruptus, Gli, Gli-2, and Gli-3, in ectoderm- and mesoderm-derived tissues suggests multiple roles during postimplantation development. Developmental Biology, 162, 402-413.
-
(1994)
Developmental Biology
, vol.162
, pp. 402-413
-
-
Hui, C.C.1
Slusarski, D.2
Platt, K.A.3
-
33
-
-
0030729082
-
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly
-
Roessler, E., Belloni, E., Gaudenz, K., et al,. (1997) Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Human Molecular Genetics, 6, 1847-1853.
-
(1997)
Human Molecular Genetics
, vol.6
, pp. 1847-1853
-
-
Roessler, E.1
Belloni, E.2
Gaudenz, K.3
-
34
-
-
40749129601
-
Recent progress in the study of Hedgehog signalling
-
Ma, G., Xiao, Y., &, He, L., (2008) Recent progress in the study of Hedgehog signalling. Journal of Genetics and Genomics, 35, 129-137.
-
(2008)
Journal of Genetics and Genomics
, vol.35
, pp. 129-137
-
-
Ma, G.1
Xiao, Y.2
He, L.3
|