Literature DB >> 15286162

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.

W Borozdin, M J Wright, R C M Hennekam, M C Hannibal, Y J Crow, T E Neumann, J Kohlhase.   

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Year:  2004        PMID： 15286162      PMCID： PMC1735876          DOI： 10.1136/jmg.2004.019505

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  25 in total

1.  The role of HSAL (SALL) genes in proliferation and differentiation in normal hematopoiesis and leukemogenesis.

Authors:  Li Chai
Journal:  Transfusion       Date:  2011-11       Impact factor: 3.157

2.  Sumoylation is important for stability, subcellular localization, and transcriptional activity of SALL4, an essential stem cell transcription factor.

Authors:  Feikun Yang; Yixin Yao; Yongping Jiang; Luo Lu; Yupo Ma; Wei Dai
Journal:  J Biol Chem       Date:  2012-09-25       Impact factor: 5.157

3.  Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

Authors:  Clémence Vanlerberghe; Anne-Sophie Jourdain; Jamal Ghoumid; Frédéric Frenois; Aurélie Mezel; Guy Vaksmann; Bruno Lenne; Bruno Delobel; Nicole Porchet; Valérie Cormier-Daire; Thomas Smol; Fabienne Escande; Sylvie Manouvrier-Hanu; Florence Petit
Journal:  Eur J Hum Genet       Date:  2018-12-14       Impact factor: 4.246

4.  Identification of the nuclear localization signal of SALL4B, a stem cell transcription factor.

Authors:  Meng Wu; Feikun Yang; Zhihua Ren; Yongping Jiang; Yupo Ma; Yan Chen; Wei Dai
Journal:  Cell Cycle       Date:  2014-03-10       Impact factor: 4.534

5.  A SALL4/MLL/HOXA9 pathway in murine and human myeloid leukemogenesis.

Authors:  Ailing Li; Youyang Yang; Chong Gao; Jiayun Lu; Ha-Won Jeong; Bee H Liu; Ping Tang; Xiaopan Yao; Donna Neuberg; Gang Huang; Daniel G Tenen; Li Chai
Journal:  J Clin Invest       Date:  2013-09-24       Impact factor: 14.808

Review 6.  Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.

Authors:  Aman George; Tiziana Cogliati; Brian P Brooks
Journal:  Exp Eye Res       Date:  2020-02-04       Impact factor: 3.467

7.  Stem cell gene SALL4 suppresses transcription through recruitment of DNA methyltransferases.

Authors:  Jianchang Yang; Tyler R Corsello; Yupo Ma
Journal:  J Biol Chem       Date:  2011-11-29       Impact factor: 5.157

8.  SALL4 is a key transcription regulator in normal human hematopoiesis.

Authors:  Chong Gao; Nikki R Kong; Ailing Li; Hiro Tatetu; Shikiko Ueno; Youyang Yang; Jie He; Jianchang Yang; Yupo Ma; Grace S Kao; Daniel G Tenen; Li Chai
Journal:  Transfusion       Date:  2012-08-31       Impact factor: 3.157

9.  Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.

Authors:  E Ullah; D Wu; L Madireddy; R Lao; P Ling-Fung Tang; E Wan; T Bardakjian; S Kopinsky; P-Y Kwok; A Schneider; S Baranzini; M Ansar; A Slavotinek
Journal:  Ophthalmic Genet       Date:  2016-09-23       Impact factor: 1.803

10.  [Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].

Authors:  A H Haus; J Kohlhase; B Käsmann; B Seitz
Journal:  Ophthalmologe       Date:  2008-06       Impact factor: 1.059
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