SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
about
Identification of the nuclear localization signal of SALL4B, a stem cell transcription factorSall4 interacts with Nanog and co-occupies Nanog genomic sites in embryonic stem cellsFunctional antagonism between Sall4 and Plzf defines germline progenitorsSALL4, the missing link between stem cells, development and cancerA Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesisSall1, sall2, and sall4 are required for neural tube closure in miceRole of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cellsStrabismus genetics across a spectrum of eye misalignment disordersThe polyoma virus large T binding protein p150 is a transcriptional repressor of c-MYCTranscriptional and post-translational regulation of the quiescence factor and putative tumor suppressor p150(Sal2).Knockdown of SALL4 inhibits the proliferation and reverses the resistance of MCF-7/ADR cells to doxorubicin hydrochloride.Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly.A developmental and genetic classification for midbrain-hindbrain malformations.From molecular mechanisms of cardiac development to genetic substrate of congenital heart diseases.The tumor suppressor protein p150(Sal2) in carcinogenesis.Functional and clinical significance of SALL4 in breast cancer.Promoter methylation of the SALL2 tumor suppressor gene in ovarian cancers.Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor.Coexisting urogenital anomaly and duodenal atresia in two atypical Holt-Oram syndrome.Immunohistochemical studies of metastatic germ-cell tumors in retroperitoneal dissection specimens: a sensitive and specific panel.Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.A phosphomimetic mutation in the Sall1 repression motif disrupts recruitment of the nucleosome remodeling and deacetylase complex and repression of Gbx2.Effect of siRNA-silencing of SALL2 gene on growth, migration and invasion of human ovarian carcinoma A2780 cells.Xq26.3 microdeletion in a male with Wildervanck Syndrome.Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.Higher expression of SALL4 predicts poor cancer prognosis: A meta-analysis.Immunoexpression of SALL4 in Wilms tumors and developing kidney.An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.Temporal changes of Sall4 lineage contribution in developing embryos and the contribution of Sall4-lineages to postnatal germ cells in mice
P2860
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P2860
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@ast
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@en
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@nl
type
label
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@ast
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@en
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@nl
prefLabel
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@ast
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@en
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@nl
P2093
P3181
P356
P1433
P1476
SALL4 mutations in Okihiro syn ...... yndrome, and related disorders
@en
P2093
Bernd Rösler
David Chitayat
Dieter Kotzot
Jürgen Kohlhase
Serdar Ceylaner
Sigrun Fuchs
Tara Montgomery
Ursula G Froster
P304
P3181
P356
10.1002/HUMU.20215
P407
P577
2005-09-01T00:00:00Z