Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
about
ABCB6 mutations cause ocular colobomaMutation of SALL2 causes recessive ocular coloboma in humans and miceIt's all in your head: new insights into craniofacial development and deformationGDF6, a novel locus for a spectrum of ocular developmental anomaliesFunctional analysis of mutations in TGIF associated with holoprosencephaly.Cdon mutation and fetal ethanol exposure synergize to produce midline signaling defects and holoprosencephaly spectrum disorders in miceFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeHeterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsExpression profiling during ocular development identifies 2 Nlz genes with a critical role in optic fissure closureOcular abnormalities in mice lacking the immunoglobulin superfamily member CdoIdentification of a candidate gene for astigmatismThe level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cupOcular anomalies and holoprosencephaly in a lamb.Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signalingSox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesisHeterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptorsThe unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure.Gene-specific differential response to anti-apoptotic therapies in zebrafish models of ocular coloboma.Sox4 regulates choroid fissure closure by limiting Hedgehog signaling during ocular morphogenesis.Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsToward a better understanding of human eye disease insights from the zebrafish, Danio rerio.Ocular coloboma: a reassessment in the age of molecular neuroscience.Eye development genes and known syndromesGorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.The role of hedgehog signaling in the development of the zebrafish visual system.Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.Sonic Hedgehog Signaling and VACTERL Association.Familial cavitary optic disk anomalies: identification of a novel genetic locus.Identification of novel regulators of atonal expression in the developing Drosophila retina.Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomaliesThe mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literatureCyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent Pathway.The genetics of ocular disorders: insights from the zebrafish.
P2860
Q24301156-0FB13068-EEF3-4E99-B4FF-321357CE78CCQ24319044-DE7E5249-6815-4BD2-AD74-FDCE6DA00EF5Q24675572-299C2BF6-B6BE-4253-891C-B9B2AFE4041EQ24680270-DAE3EB8E-1E16-4382-AB2A-3B3B36EEEDABQ24681018-8E5D04F7-0F96-4F4E-A623-39654703E03EQ27330705-0AFAD000-AD97-4BF6-9F7D-60A7E55B4431Q28247493-5795EB34-3224-4C98-BB84-FBCB47A654D7Q28306581-C7B3B40E-B32E-4B4F-BE1B-50BDA6042376Q28312171-CBD7CAAF-FD7D-4C9E-B18E-1F0C7C0600EDQ28591959-54AD1AC0-93D2-4150-A7E3-EC1F26359225Q28943257-E9A2BD8A-82AC-43E6-9218-18CB197D8125Q33266825-43C3A869-06D1-4DE4-8365-1442F2AE8D4AQ33314401-9D9AE0E6-EE2C-41FE-B0D4-20D30D2A1F75Q33553088-CA43D5D1-43D8-44FA-B68D-5861773DC406Q33881175-CB9F198D-9D87-4F22-9C53-952632B9A2ACQ33911957-652A4704-3E0C-4805-A69C-196592467499Q34204781-D9A2F566-ED9B-47C5-9C60-6A2F08284566Q34329523-B7D2EE78-D204-4438-819A-7AE1D22DF2F0Q34512575-83BFD77F-5533-4FB9-91F5-86531B429BABQ35032282-9915F2AE-B05A-472A-BEDB-3C1F53E80CB4Q35118322-C4CC93BF-CBD6-4049-8AE7-204CA1E4410CQ35125578-06DA83BE-07DB-42D9-A035-2B5448D168D1Q35176354-139970E4-E966-4739-A580-F6EFCA821D19Q35444452-D616F622-9C82-4BB6-8DF9-2A5A301597FDQ35573283-41323196-7C35-4027-858D-58D7CB1E28E9Q35593440-A6309FB2-8D23-421B-A0D4-2D6AEE5768BAQ36107483-63A3DCEA-16F3-46B6-A59C-EAB925030EE8Q36108521-2481CFC4-2CE8-48AE-B6EC-549B7E19C8FAQ36509388-CC25875D-F6E8-48DF-834C-9B24EC9C80F6Q36676827-5BCB56B4-7688-43FF-A493-E7065B6CE559Q36719098-8232FD7C-6077-4314-BBA1-5B5236CF8F2FQ36802365-CD072D5F-0AB3-4A3E-AC55-C6FB8800DD20Q36933329-2C17B2A4-4482-4F9E-A3D2-6B9D87E8B5FBQ37011386-C18363EE-18BB-4811-B21E-FD198E5BFA9AQ37066070-F7FC810D-5FF4-4820-B75E-434522999A79Q37269809-481EFF3B-09A5-4FF9-BAB4-36D33848D1ABQ37411003-3BB227F9-E390-42F7-9AD4-931B00C8505CQ37613190-399EA9BF-1572-428B-AD1A-0C02187AD9CAQ37641864-4A75F0D1-1060-4A4E-BC88-02CFB8B913C9Q37935720-D7D27F78-B2DE-4B1D-8D6F-4DB0D6153427
P2860
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@en
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@nl
type
label
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@en
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@nl
prefLabel
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@en
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@nl
P2093
P356
P1476
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
@en
P2093
Erich Roessler
Glenda S Manligas
J D Karkera
June de la Cruz
Maximilian Muenke
Richard Alan Lewis
P304
P356
10.1002/AJMG.A.10884
P407
P577
2003-01-01T00:00:00Z