Literature DB >> 26671912

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

Kimberly A Aldinger1, Nancy J Mendelsohn2, Brian Hy Chung3, Wenjuan Zhang4, Daniel H Cohn4, Bridget Fernandez5, Fowzan S Alkuraya6, William B Dobyns7, Cynthia J Curry8.   

Abstract

Entities:  

Keywords:  Developmental; Genetics; Neurology

Mesh：

Substances：

Year:  2015        PMID： 26671912      PMCID： PMC4898782          DOI： 10.1136/jmedgenet-2015-103476

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


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  16 in total

1.  WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

Authors:  Christine M Laine; Kyu Sang Joeng; Philippe M Campeau; Riku Kiviranta; Kati Tarkkonen; Monica Grover; James T Lu; Minna Pekkinen; Maija Wessman; Terhi J Heino; Vappu Nieminen-Pihala; Mira Aronen; Tero Laine; Heikki Kröger; William G Cole; Anna-Elina Lehesjoki; Lisette Nevarez; Deborah Krakow; Cynthia J R Curry; Daniel H Cohn; Richard A Gibbs; Brendan H Lee; Outi Mäkitie
Journal:  N Engl J Med       Date:  2013-05-09       Impact factor: 91.245

2.  The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

Authors:  Kyu Sang Joeng; Yi-Chien Lee; Ming-Ming Jiang; Terry K Bertin; Yuqing Chen; Annie M Abraham; Hao Ding; Xiaohong Bi; Catherine G Ambrose; Brendan H Lee
Journal:  Hum Mol Genet       Date:  2014-03-14       Impact factor: 6.150

3.  Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Authors:  Joshi Stephen; Katta Mohan Girisha; Ashwin Dalal; Anju Shukla; Hitesh Shah; Priyanka Srivastava; Uwe Kornak; Shubha R Phadke
Journal:  Eur J Med Genet       Date:  2014-10-24       Impact factor: 2.708

4.  Unilateral cerebellar aplasia.

Authors:  E Boltshauser; M Steinlin; E Martin; T Deonna
Journal:  Neuropediatrics       Date:  1996-02       Impact factor: 1.947

5.  Wnt1 expression temporally allocates upper rhombic lip progenitors and defines their terminal cell fate in the cerebellum.

Authors:  Nellwyn Hagan; Mark Zervas
Journal:  Mol Cell Neurosci       Date:  2011-12-06       Impact factor: 4.314

6.  Analysis and classification of cerebellar malformations.

Authors:  Sandeep Patel; A James Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2002-08       Impact factor: 3.825

7.  WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.

Authors:  Shawna M Pyott; Thao T Tran; Dru F Leistritz; Melanie G Pepin; Nancy J Mendelsohn; Renee T Temme; Bridget A Fernandez; Solaf M Elsayed; Ezzat Elsobky; Ishwar Verma; Sreelata Nair; Emily H Turner; Joshua D Smith; Gail P Jarvik; Peter H Byers
Journal:  Am J Hum Genet       Date:  2013-03-14       Impact factor: 11.025

8.  Mutations in WNT1 cause different forms of bone fragility.

Authors:  Katharina Keupp; Filippo Beleggia; Hülya Kayserili; Aileen M Barnes; Magdalena Steiner; Oliver Semler; Björn Fischer; Gökhan Yigit; Claudia Y Janda; Jutta Becker; Stefan Breer; Umut Altunoglu; Johannes Grünhagen; Peter Krawitz; Jochen Hecht; Thorsten Schinke; Elena Makareeva; Ekkehart Lausch; Tufan Cankaya; José A Caparrós-Martín; Pablo Lapunzina; Samia Temtamy; Mona Aglan; Bernhard Zabel; Peer Eysel; Friederike Koerber; Sergey Leikin; K Christopher Garcia; Christian Netzer; Eckhard Schönau; Victor L Ruiz-Perez; Stefan Mundlos; Michael Amling; Uwe Kornak; Joan Marini; Bernd Wollnik
Journal:  Am J Hum Genet       Date:  2013-03-14       Impact factor: 11.025

Review 9.  Wnt signaling in development, disease and translational medicine.

Authors:  Gary S Coombs; Tracy M Covey; David M Virshup
Journal:  Curr Drug Targets       Date:  2008-07       Impact factor: 3.465

10.  Swaying is a mutant allele of the proto-oncogene Wnt-1.

Authors:  K R Thomas; T S Musci; P E Neumann; M R Capecchi
Journal:  Cell       Date:  1991-11-29       Impact factor: 41.582
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  19 in total

Review 1.  The genetics of cerebellar malformations.

Authors:  Kimberly A Aldinger; Dan Doherty
Journal:  Semin Fetal Neonatal Med       Date:  2016-05-07       Impact factor: 3.926

2.  Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Authors:  Shahida Moosa; Guilherme L Yamamoto; Lutz Garbes; Katharina Keupp; Ana Beleza-Meireles; Carolina Araujo Moreno; Eugenia Ribeiro Valadares; Sérgio B de Sousa; Sofia Maia; Jorge Saraiva; Rachel S Honjo; Chong Ae Kim; Hamilton Cabral de Menezes; Ekkehart Lausch; Pablo Villavicencio Lorini; Arsonval Lamounier; Tulio Canella Bezerra Carniero; Cecilia Giunta; Marianne Rohrbach; Marco Janner; Oliver Semler; Filippo Beleggia; Yun Li; Gökhan Yigit; Nadine Reintjes; Janine Altmüller; Peter Nürnberg; Denise P Cavalcanti; Bernhard Zabel; Matthew L Warman; Debora R Bertola; Bernd Wollnik; Christian Netzer
Journal:  Am J Hum Genet       Date:  2019-09-26       Impact factor: 11.025

3.  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

4.  Redefining the Etiologic Landscape of Cerebellar Malformations.

Authors:  Kimberly A Aldinger; Andrew E Timms; Zachary Thomson; Ghayda M Mirzaa; James T Bennett; Alexander B Rosenberg; Charles M Roco; Matthew Hirano; Fatima Abidi; Parthiv Haldipur; Chi V Cheng; Sarah Collins; Kaylee Park; Jordan Zeiger; Lynne M Overmann; Fowzan S Alkuraya; Leslie G Biesecker; Stephen R Braddock; Sara Cathey; Megan T Cho; Brian H Y Chung; David B Everman; Yuri A Zarate; Julie R Jones; Charles E Schwartz; Amy Goldstein; Robert J Hopkin; Ian D Krantz; Roger L Ladda; Kathleen A Leppig; Barbara C McGillivray; Susan Sell; Katherine Wusik; Joseph G Gleeson; Deborah A Nickerson; Michael J Bamshad; Dianne Gerrelli; Steven N Lisgo; Georg Seelig; Gisele E Ishak; A James Barkovich; Cynthia J Curry; Ian A Glass; Kathleen J Millen; Dan Doherty; William B Dobyns
Journal:  Am J Hum Genet       Date:  2019-08-29       Impact factor: 11.025

5.  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

6.  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

7.  Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

Authors:  Romina Romaniello; Filippo Arrigoni; Elena Panzeri; Andrea Poretti; Alessia Micalizzi; Andrea Citterio; Maria Francesca Bedeschi; Angela Berardinelli; Raffaella Cusmai; Stefano D'Arrigo; Alessandro Ferraris; Annette Hackenberg; Alma Kuechler; Margherita Mancardi; Sara Nuovo; Barbara Oehl-Jaschkowitz; Andrea Rossi; Sabrina Signorini; Frank Tüttelmann; Dagmar Wahl; Ute Hehr; Eugen Boltshauser; Maria Teresa Bassi; Enza Maria Valente; Renato Borgatti
Journal:  Eur Radiol       Date:  2017-07-04       Impact factor: 5.315

Review 8.  Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.

Authors:  Milena Jovanovic; Gali Guterman-Ram; Joan C Marini
Journal:  Endocr Rev       Date:  2022-01-12       Impact factor: 19.871

9.  Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation.

Authors:  Ethiraj Ravindran; Hao Hu; Scott A Yuzwa; Luis R Hernandez-Miranda; Nadine Kraemer; Olaf Ninnemann; Luciana Musante; Eugen Boltshauser; Detlev Schindler; Angela Hübner; Hans-Christian Reinecker; Hans-Hilger Ropers; Carmen Birchmeier; Freda D Miller; Thomas F Wienker; Christoph Hübner; Angela M Kaindl
Journal:  PLoS Genet       Date:  2017-04-28       Impact factor: 5.917

10.  The Joubert Syndrome Gene arl13b is Critical for Early Cerebellar Development in Zebrafish.

Authors:  Jian Zhu; Han-Tsing Wang; Yu-Rong Chen; Ling-Ya Yan; Ying-Ying Han; Ling-Yan Liu; Ying Cao; Zhi-Zhi Liu; Hong A Xu
Journal:  Neurosci Bull       Date:  2020-08-18       Impact factor: 5.203
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