Literature DB >> 23667181

No evidence for locus heterogeneity in Knobloch syndrome.

Mohammed A Aldahmesh, Arif O Khan, Jawahir Y Mohamed, Alex V Levin, Wadakarn Wuthisiri, Sally Lynch, K McCreery, Fowzan S Alkuraya.   

Abstract

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Keywords:  Academic medicine

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Year:  2013        PMID： 23667181     DOI： 10.1136/jmedgenet-2013-101755

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


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  7 in total

1.  Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.

Authors:  Lu-Si Zhang; Hai-Bo Li; Jun Zeng; Yan Yang; Chun Ding
Journal:  Int J Ophthalmol       Date:  2018-06-18       Impact factor: 1.779

Review 2.  The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.

Authors:  Aaron L Fidler; Sergei P Boudko; Antonis Rokas; Billy G Hudson
Journal:  J Cell Sci       Date:  2018-04-09       Impact factor: 5.285

Review 3.  Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.

Authors:  Ahmet Okay Caglayan; Jacob F Baranoski; Fesih Aktar; Wengi Han; Beyhan Tuysuz; Aslan Guzel; Bulent Guclu; Hande Kaymakcalan; Berrin Aktekin; Gozde Tugce Akgumus; Phillip B Murray; Emine Z Erson-Omay; Caner Caglar; Mehmet Bakircioglu; Yildirim Bayezit Sakalar; Ebru Guzel; Nihat Demir; Oguz Tuncer; Senem Senturk; Baris Ekici; Frank J Minja; Nenad Šestan; Katsuhito Yasuno; Kaya Bilguvar; Huseyin Caksen; Murat Gunel
Journal:  Pediatr Neurol       Date:  2014-09-04       Impact factor: 3.372

4.  ADAMTS18+ villus tip telocytes maintain a polarized VEGFA signaling domain and fenestrations in nutrient-absorbing intestinal blood vessels.

Authors:  Jeremiah Bernier-Latmani; Cristina Mauri; Rachel Marcone; François Renevey; Stephan Durot; Liqun He; Michael Vanlandewijck; Catherine Maclachlan; Suzel Davanture; Nicola Zamboni; Graham W Knott; Sanjiv A Luther; Christer Betsholtz; Mauro Delorenzi; Cathrin Brisken; Tatiana V Petrova
Journal:  Nat Commun       Date:  2022-07-09       Impact factor: 17.694

5.  Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

Authors:  Alireza Haghighi; Amit Tiwari; Niloofar Piri; Gudrun Nürnberg; Nasrollah Saleh-Gohari; Amirreza Haghighi; John Neidhardt; Peter Nürnberg; Wolfgang Berger
Journal:  PLoS One       Date:  2014-11-13       Impact factor: 3.240

Review 6.  ADAMTS-18: a metalloproteinase with multiple functions.

Authors:  Jianlu Wei; Chuan-ju Liu; Zongdong Li
Journal:  Front Biosci (Landmark Ed)       Date:  2014-06-01

7.  An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.

Authors:  Panfeng Wang; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Yuxi Long; Mengchu Liu; Yongyu Li; Jun Li; Yan Xu; Qingjiong Zhang
Journal:  Front Cell Dev Biol       Date:  2021-06-25
  7 in total

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