Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family - Wikidata - wikimedia - TriplyDB

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

http://www.wikidata.org/entity/Q24632196

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Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis Bmi-1 is a target gene for SALL4 in hematopoietic and leukemic cells Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy SALL4, a novel oncogene, is constitutively expressed in human acute myeloid leukemia (AML) and induces AML in transgenic mice Of mice and men: molecular genetics of congenital heart disease Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex SALL4, the missing link between stem cells, development and cancer SALL4 is a key transcription regulator in normal human hematopoiesis SALL4 is a key regulator of survival and apoptosis in human leukemic cells A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart A SALL4/MLL/HOXA9 pathway in murine and human myeloid leukemogenesis Histone lysine-specific demethylase 1 (LSD1) protein is involved in Sal-like protein 4 (SALL4)-mediated transcriptional repression in hematopoietic stem cells Aberrant expression of SALL4 in acute B cell lymphoblastic leukemia: mechanism, function, and implication for a potential novel therapeutic target Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains Sall3 is required for the terminal maturation of olfactory glomerular interneurons Ex-vivo expansion of nonhuman primate CD34(+) cells by stem cell factor Sall4B Significance of oncogenes and tumor suppressor genes in AML prognosis.Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells Oncofetal gene SALL4 and prognosis in cancer: A systematic review with meta-analysis.Clinical characterization of the HOXA1 syndrome BSAS variant Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.Carboxypeptidase A6 in zebrafish development and implications for VIth cranial nerve pathfinding Sumoylation modulates the activity of Spalt-like proteins during wing development in Drosophila Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations Differential roles of Sall4 isoforms in embryonic stem cell pluripotency Expression of transcript factors SALL4 and OCT4 in a subset of non-small cell lung carcinomas (NSCLC).Strabismus genetics across a spectrum of eye misalignment disorders The polyoma virus large T binding protein p150 is a transcriptional repressor of c-MYC Transcriptional and post-translational regulation of the quiescence factor and putative tumor suppressor p150(Sal2).Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3)Expansion of the CHN1 strabismus phenotype.Enhanced self-renewal of hematopoietic stem/progenitor cells mediated by the stem cell gene Sall4 Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)Knockdown of SALL4 Protein Enhances All-trans Retinoic Acid-induced Cellular Differentiation in Acute Myeloid Leukemia Cells

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Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family

http://www.wikidata.org/entity/Q24632196

description

2002 nî lūn-bûn

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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2002 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2002年の論文

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Duane radial ray syndrome (Oki ...... a new member of the SAL family

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Duane radial ray syndrome (Oki ...... a new member of the SAL family

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American Journal of Human Genetics

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Duane radial ray syndrome (Oki ...... a new member of the SAL family

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P2093

Caroline Andrews

http://www.w3.org/2001/XMLSchema#string

Cynthia St Hilaire

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E Jean Martonyi

http://www.w3.org/2001/XMLSchema#string

Elizabeth C Engle

http://www.w3.org/2001/XMLSchema#string

Koki Yamada

http://www.w3.org/2001/XMLSchema#string

Michael M Okihiro

http://www.w3.org/2001/XMLSchema#string

Motoi Nakano

http://www.w3.org/2001/XMLSchema#string

Nathalie McIntosh

http://www.w3.org/2001/XMLSchema#string

Raidah Al-Baradie

http://www.w3.org/2001/XMLSchema#string

Sada Okumura

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

Murine Sall1 represses transcription by recruiting a histone deacetylase complex

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

SALL3, a new member of the human spalt-like gene family, maps to 18q23.

Localization of a gene for Duane retraction syndrome to chromosome 2q31

Bilateral Duane's retraction syndrome. A clinical-pathologic case report.

Characteristics of Okihiro syndrome.

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

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10.1086/343821

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