Literature DB >> 29777588

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.

Manar Zaghlula1,2, Daniel G Glaze3,4,5, Gregory M Enns6, Lorraine Potocki4,5,7, Aloysia L Schwabe4,5,7, Bernhard Suter3,4,5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 29777588     DOI： 10.1002/ajmg.a.38689

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  7 in total

Review 1.  Emerging Insights into the Distinctive Neuronal Methylome.

Authors:  Adam W Clemens; Harrison W Gabel
Journal:  Trends Genet       Date:  2020-08-21       Impact factor: 11.639

2.  Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Authors:  Evelyn Quintanilha Vianna; Rafael Mina Piergiorge; Andressa Pereira Gonçalves; Jussara Mendonça Dos Santos; Veluma Calassara; Carla Rosenberg; Ana Cristina Victorino Krepischi; Raquel Tavares Boy da Silva; Suely Rodrigues Dos Santos; Márcia Gonçalves Ribeiro; Filipe Brum Machado; Enrique Medina-Acosta; Márcia Mattos Gonçalves Pimentel; Cíntia Barros Santos-Rebouças
Journal:  Mol Neurobiol       Date:  2020-06-20       Impact factor: 5.590

Review 3.  Rare variant of TBL1XR1 in West syndrome: A case report.

Authors:  Yajun Shen; Meng Yuan; Huan Luo; Zuozhen Yang; Mengmeng Liang; Jing Gan
Journal:  Mol Genet Genomic Med       Date:  2022-05-25       Impact factor: 2.473

4.  Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Authors:  Xinran Dong; Bo Liu; Lin Yang; Huijun Wang; Bingbing Wu; Renchao Liu; Hongbo Chen; Xiang Chen; Sha Yu; Bin Chen; Sujuan Wang; Xiu Xu; Wenhao Zhou; Yulan Lu
Journal:  J Med Genet       Date:  2020-01-31       Impact factor: 6.318

Review 5.  MeCP2: The Genetic Driver of Rett Syndrome Epigenetics.

Authors:  Katrina V Good; John B Vincent; Juan Ausió
Journal:  Front Genet       Date:  2021-01-21       Impact factor: 4.599

6.  Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.

Authors:  Jian Zhou; Hamdan Hamdan; Hari Krishna Yalamanchili; Kaifang Pang; Amy E Pohodich; Joanna Lopez; Yingyao Shao; Juan A Oses-Prieto; Lifang Li; Wonho Kim; Mark A Durham; Sameer S Bajikar; Donna J Palmer; Philip Ng; Michelle L Thompson; E Martina Bebin; Amelie J Müller; Alma Kuechler; Antje Kampmeier; Tobias B Haack; Alma L Burlingame; Zhandong Liu; Matthew N Rasband; Huda Y Zoghbi
Journal:  Proc Natl Acad Sci U S A       Date:  2022-01-25       Impact factor: 12.779

7.  TBL1XR1 induces cell proliferation and inhibit cell apoptosis by the PI3K/AKT pathway in pancreatic ductal adenocarcinoma.

Authors:  Jian-Feng Gu; Wei Fu; Hai-Xin Qian; Wen-Xiu Gu; Yang Zong; Qian Chen; Long Lu
Journal:  World J Gastroenterol       Date:  2020-07-07       Impact factor: 5.742
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.