CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds
about
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationMutation of SALL2 causes recessive ocular coloboma in humans and miceFOXE3 plays a significant role in autosomal recessive microphthalmiaCommon MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopiaMutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from QatarAbsence of chx10 causes neural progenitors to persist in the adult retinaAn autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.Vsx2 controls eye organogenesis and retinal progenitor identity via homeodomain and non-homeodomain residues required for high affinity DNA bindingVSX2 mutations in autosomal recessive microphthalmiaEye development genes and known syndromesGorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation.Genetic chimeras reveal the autonomy requirements for Vsx2 in embryonic retinal progenitor cells.VSX2 and ASCL1 Are Indicators of Neurogenic Competence in Human Retinal Progenitor Cultures.Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.Vsx2/Chx10 ensures the correct timing and magnitude of Hedgehog signaling in the mouse retinaGenetic architecture of natural variation in visual senescence in Drosophila.Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.The hyaloid vasculature facilitates basement membrane breakdown during choroid fissure closure in the zebrafish eye.Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.Distinct cis-acting regions control six6 expression during eye field and optic cup stages of eye formation.Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.
P2860
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P2860
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds
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2004 nî lūn-bûn
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2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@ast
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@en
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@nl
type
label
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@ast
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@en
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@nl
prefLabel
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@ast
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@en
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@nl
P2093
P1433
P1476
CHX10 mutations cause non-synd ...... ia in Arab and Jewish kindreds
@en
P2093
Izzeldin Abuelaish
Neta Hendler
Rivka Ofir
Tamar Harel
Udy Bar-Yosef
P2888
P356
10.1007/S00439-004-1154-2
P407
P50
P577
2004-09-01T00:00:00Z
P6179
1050386780