Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
about
Homozygous null mutation in ODZ3 causes microphthalmia in humansRNA-binding proteins in eye development and disease: implication of conserved RNA granule componentsVisualized gene network reveals the novel target transcripts Sox2 and Pax6 of neuronal development in trans-placental exposure to bisphenol AGenomic control of neuronal demographics in the retinaCleft Palate in a Mouse Model of SOX2 HaploinsufficiencyExamination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypesSOX2 hypomorphism disrupts development of the prechordal floor and optic cupNovel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese familySox2 regulates cholinergic amacrine cell positioning and dendritic stratification in the retinaTargeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutationsWhole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmiaNovel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotypeIsolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringMutations in MAB21L2 result in ocular Coloboma, microcornea and cataractsSox2 activates cell proliferation and differentiation in the respiratory epithelium.Eye development genes and known syndromesParent-of-origin effects in SOX2 anophthalmia syndromeExome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.Genetics of anterior segment dysgenesis disorders.ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.Exploration and detection of potential regulatory variants in refractive error GWAS.Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.Whole-genome copy number variation analysis in anophthalmia and microphthalmia.DNA-mediated cooperativity facilitates the co-selection of cryptic enhancer sequences by SOX2 and PAX6 transcription factors.How do disordered regions achieve comparable functions to structured domains?Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Aberrant expression and biological significance of Sox2, an embryonic stem cell transcriptional factor, in ALK-positive anaplastic large cell lymphoma.Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.Sox2 regulates astrocytic and vascular development in the retina.Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.Evolutionarily conserved and conformationally constrained short peptides might serve as DNA recognition elements in intrinsically disordered regions.De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassingSOX2
P2860
Q24339536-B5D54765-A5D4-430F-94E6-50CB84D109FCQ26748745-A09240AD-D952-496F-933E-E0C4ADA78629Q28541014-5B761AB4-E1D2-41DA-AC58-7FE6DC49F7ACQ30391509-02BC7163-5150-467C-934C-D79D3B6F0AC4Q33603730-F4FE8534-9036-4F53-A82D-E9403BA5D045Q33821133-175FA715-85DB-471D-A4CD-B58FABD8FC7BQ33829466-B5606FFA-A584-4658-BED5-0670E42F65AAQ33846693-E06DC6CF-B152-4257-B34F-252E070F9E13Q33935950-AD06CDC2-9653-4CC1-AAB2-D3F41C4CE353Q34113152-F1923E29-765E-4B1F-894F-E7BDA60F17CCQ34178019-CDCA0400-3F83-4141-B359-E632F39AA959Q34425375-E7E0F9E3-55AE-436D-81F7-3C36027B7330Q34474376-8E89A409-E666-4225-B8B0-FA5DFCDBE2C8Q35108596-D8E71C53-FC8F-4D9A-9117-B9A694CD0CB1Q35125578-EC8DA06D-6C01-4F5B-A365-6ACB30F71E90Q35132159-59C8B572-ECDD-4BA6-9E9F-B2182778B6AAQ35573283-CFF08A36-6507-4853-94E2-F1EADC260CEBQ35608003-FBC789C3-10F0-4E28-9DC2-8D64BD8CA5ADQ35674974-33BF9D63-EB63-439B-97FB-73E552C1D3A1Q36365816-31C13781-37DC-4310-8FA2-22C5D4DB8D53Q36571645-54685E14-5DEC-4A5C-BB67-3DB6307EE784Q37045101-F18E2545-14DB-48BC-A9D6-42A4A4C85F76Q37058029-B833D9C8-47A5-423D-A337-849B5D57C0D6Q37239888-125B8A5B-9920-4214-BB69-35D73D3A9A7AQ37483886-24E6D66F-A9FD-4FC5-BB72-D6C21C13FF21Q37700820-6854D98E-E298-4F1D-873C-4C29946D474EQ38301759-3E8D01BE-046A-4919-9651-4E158D24AACCQ38370771-169BEC8F-C93A-41DE-86DB-815C903B4141Q38517281-6061B4AA-C607-4FF4-8A53-BAB35D3E5CFBQ38797075-CF7DACC8-67DA-4BF2-BC14-AB30A7CA401DQ42322572-795B50AD-12BB-4A00-A19C-85AFE4C33D43Q45343810-2DD987D5-5195-4013-BABD-E84555A37D61Q46438040-FF967879-BAB9-4F21-B385-38B1F823816EQ48313441-6A6F389F-2A09-45DA-B816-9DE226368C92Q51099642-EFD501C6-1DE2-4801-9095-E86AC46BFB34Q52113860-6131C776-06AD-4276-B3B4-A1316BDD2A6FQ52127630-884B4151-E6A4-4B92-B868-48CB86EE87DCQ57251781-30CE2E37-6E58-40E2-8F08-C7081B0C098D
P2860
Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@en
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@nl
type
label
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@en
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@nl
prefLabel
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@en
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@nl
P2093
P2860
P356
P1476
Novel SOX2 mutations and genot ...... ophthalmia and microphthalmia.
@en
P2093
Adele Schneider
Linda M Reis
Rebecca C Tyler
Tanya Bardakjian
P2860
P304
P356
10.1002/AJMG.A.33098
P407
P577
2009-12-01T00:00:00Z