Literature DB >> 23320496

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

A O Caglayan1, H Per, G Akgumus, H Gumus, J Baranoski, M Canpolat, M Calik, A Yikilmaz, K Bilguvar, S Kumandas, M Gunel.   

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Year:  2013        PMID： 23320496      PMCID： PMC4191904          DOI： 10.1111/cge.12088

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Authors:  Baozhong Xin; Erik G Puffenberger; Susan Turben; Haiyan Tan; Aimin Zhou; Heng Wang
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-14       Impact factor: 11.205

2.  Molecular cloning, expression patterns and subcellular localization of porcine TMCO1 gene.

Authors:  Zhisheng Zhang; Delin Mo; Peiqing Cong; Zuyong He; Fei Ling; Anning Li; Yuna Niu; Xiao Zhao; Chunyan Zhou; Yaosheng Chen
Journal:  Mol Biol Rep       Date:  2009-05-16       Impact factor: 2.316

3.  Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Authors:  Kaya Bilgüvar; Ali Kemal Oztürk; Angeliki Louvi; Kenneth Y Kwan; Murim Choi; Burak Tatli; Dilek Yalnizoğlu; Beyhan Tüysüz; Ahmet Okay Cağlayan; Sarenur Gökben; Hande Kaymakçalan; Tanyeri Barak; Mehmet Bakircioğlu; Katsuhito Yasuno; Winson Ho; Stephan Sanders; Ying Zhu; Sanem Yilmaz; Alp Dinçer; Michele H Johnson; Richard A Bronen; Naci Koçer; Hüseyin Per; Shrikant Mane; Mehmet Necmettin Pamir; Cengiz Yalçinkaya; Sefer Kumandaş; Meral Topçu; Meral Ozmen; Nenad Sestan; Richard P Lifton; Matthew W State; Murat Günel
Journal:  Nature       Date:  2010-08-22       Impact factor: 49.962
  3 in total
  9 in total

1.  DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

Authors:  Yutao Liu; Melanie E Garrett; Brian L Yaspan; Jessica Cooke Bailey; Stephanie J Loomis; Murray Brilliant; Donald L Budenz; William G Christen; John H Fingert; Douglas Gaasterland; Terry Gaasterland; Jae H Kang; Richard K Lee; Paul Lichter; Sayoko E Moroi; Anthony Realini; Julia E Richards; Joel S Schuman; William K Scott; Kuldev Singh; Arthur J Sit; Douglas Vollrath; Robert Weinreb; Gadi Wollstein; Donald J Zack; Kang Zhang; Margaret A Pericak-Vance; Jonathan L Haines; Louis R Pasquale; Janey L Wiggs; R Rand Allingham; Allison E Ashley-Koch; Michael A Hauser
Journal:  Invest Ophthalmol Vis Sci       Date:  2014-11-20       Impact factor: 4.799

2.  Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Authors:  Davut Pehlivan; Ender Karaca; Hatip Aydin; Christine R Beck; Tomasz Gambin; Donna M Muzny; B Bilge Geckinli; Ali Karaman; Shalini N Jhangiani; Richard A Gibbs; James R Lupski
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

3.  Identification of Oxa1 Homologs Operating in the Eukaryotic Endoplasmic Reticulum.

Authors:  S Andrei Anghel; Philip T McGilvray; Ramanujan S Hegde; Robert J Keenan
Journal:  Cell Rep       Date:  2017-12-26       Impact factor: 9.423

4.  Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Authors:  Jennifer A F Tender; Carlos R Ferreira
Journal:  Transl Sci Rare Dis       Date:  2018-04-13

5.  An ER translocon for multi-pass membrane protein biogenesis.

Authors:  Philip T McGilvray; S Andrei Anghel; Arunkumar Sundaram; Frank Zhong; Michael J Trnka; James R Fuller; Hong Hu; Alma L Burlingame; Robert J Keenan
Journal:  Elife       Date:  2020-08-21       Impact factor: 8.140

Review 6.  The Molecular Biodiversity of Protein Targeting and Protein Transport Related to the Endoplasmic Reticulum.

Authors:  Andrea Tirincsi; Mark Sicking; Drazena Hadzibeganovic; Sarah Haßdenteufel; Sven Lang
Journal:  Int J Mol Sci       Date:  2021-12-23       Impact factor: 5.923

7.  Ca2+ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling.

Authors:  Ke-Yan Yang; Song Zhao; Haiping Feng; Jiaqi Shen; Yuwei Chen; Si-Tong Wang; Si-Jia Wang; Yu-Xin Zhang; Yun Wang; Caixia Guo; Hongmei Liu; Tie-Shan Tang
Journal:  Cell Death Dis       Date:  2022-08-04       Impact factor: 9.685

8.  Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.

Authors:  B Molloy; E R Jones; N D Linhares; P G Buckley; T R Leahy; B Lynch; I Knerr; M D King; K M Gorman
Journal:  Front Genet       Date:  2022-09-14       Impact factor: 4.772

Review 9.  From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.

Authors:  Helen Batchelor-Regan; Baozhong Xin; Aimin Zhou; Heng Wang
Journal:  Front Genet       Date:  2021-05-20       Impact factor: 4.599
  9 in total

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