Literature DB >> 23709755

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype.

Eissa Faqeih, Ranad Shaheen, Fowzan S Alkuraya.   

Abstract

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Keywords:  Academic medicine

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Year:  2013        PMID： 23709755     DOI： 10.1136/jmedgenet-2013-101750

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


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  25 in total

1.  Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.

Authors:  Renata Moldenhauer Minillo; Nara Sobreira; Maria de Fatima de Faria Soares; Julie Jurgens; Hua Ling; Kurt N Hetrick; Kimberly F Doheny; David Valle; Decio Brunoni; Ana B Alvarez Perez
Journal:  Mol Syndromol       Date:  2014-11-25

2.  Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Authors:  Muhammad Umair; Bader Alhaddad; Afzal Rafique; Abid Jan; Tobias B Haack; Elisabeth Graf; Asmat Ullah; Farooq Ahmad; Tim M Strom; Thomas Meitinger; Wasim Ahmad
Journal:  Pediatr Res       Date:  2017-07-26       Impact factor: 3.756

3.  A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation.

Authors:  Caressa D Lietman; Ronit Marom; Elda Munivez; Terry K Bertin; Ming-Ming Jiang; Yuqing Chen; Brian Dawson; Mary Ann Weis; David Eyre; Brendan Lee
Journal:  J Bone Miner Res       Date:  2015-03       Impact factor: 6.741

4.  Disulfide bond requirements for active Wnt ligands.

Authors:  Bryan T MacDonald; Annie Hien; Xinjun Zhang; Oladoyin Iranloye; David M Virshup; Marian L Waterman; Xi He
Journal:  J Biol Chem       Date:  2014-05-19       Impact factor: 5.157

Review 5.  Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.

Authors:  Joan C Marini; Adi Reich; Simone M Smith
Journal:  Curr Opin Pediatr       Date:  2014-08       Impact factor: 2.856

Review 6.  WNT signaling in bone development and homeostasis.

Authors:  Zhendong Zhong; Nicole J Ethen; Bart O Williams
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2014-09-30       Impact factor: 5.814

7.  Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis.

Authors:  Kyu Sang Joeng; Yi-Chien Lee; Joohyun Lim; Yuqing Chen; Ming-Ming Jiang; Elda Munivez; Catherine Ambrose; Brendan H Lee
Journal:  J Clin Invest       Date:  2017-06-19       Impact factor: 14.808

8.  WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

Authors:  Piranit Nik Kantaputra; Yuddhasert Sirirungruangsarn; Pannee Visrutaratna; Sasitorn Petcharunpaisan; Bruce M Carlson; Worrachet Intachai; Jutamas Sudasna; Jatupol Kampuansai; Prapai Dejkhamron
Journal:  J Hum Genet       Date:  2019-01-28       Impact factor: 3.172

9.  Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient.

Authors:  Yanqin Lu; Yunzhang Dai; Yanzhou Wang; Naixiang Zhai; Jian Zhang; Junlong Liu; Xiaoli Yin; Tianyou Li; Xiuzhi Ren; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2018-02

10.  Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Authors:  Kimberly A Aldinger; Nancy J Mendelsohn; Brian Hy Chung; Wenjuan Zhang; Daniel H Cohn; Bridget Fernandez; Fowzan S Alkuraya; William B Dobyns; Cynthia J Curry
Journal:  J Med Genet       Date:  2015-12-15       Impact factor: 6.318
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