Literature DB >> 27587986

Arthrogryposis as a Syndrome: Gene Ontology Analysis.

Judith G Hall1, Jeff Kiefer2.   

Abstract

Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried to place the known mutated genes seen in genetic forms of arthrogryposis into biological processes or cellular functions as defined by gene ontology. We hope this leads to better identification of all interacting pathways and processes involved in the development of fetal movement in order to improve diagnosis of the genetic forms of arthrogryposis, to lead to the development of molecular therapies, and to help better define the natural history of various types of arthrogryposis.

Entities:  

Keywords:  Arthrogryposis; ClueGO; Connective tissue; Cytoscape; Enrichment analysis; Fetal movement; Gene ontology; Molecular pathways; Multiple congenital contractures; Reactome

Year:  2016        PMID: 27587986      PMCID: PMC4988256          DOI: 10.1159/000446617

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


  12 in total

Review 1.  Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.

Authors:  Isabel Filges; Judith G Hall
Journal:  Prenat Diagn       Date:  2013-01       Impact factor: 3.050

2.  Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Authors:  Yavuz Bayram; Ender Karaca; Zeynep Coban Akdemir; Elif Ozdamar Yilmaz; Gulsen Akay Tayfun; Hatip Aydin; Deniz Torun; Sevcan Tug Bozdogan; Alper Gezdirici; Sedat Isikay; Mehmed M Atik; Tomasz Gambin; Tamar Harel; Ayman W El-Hattab; Wu-Lin Charng; Davut Pehlivan; Shalini N Jhangiani; Donna M Muzny; Ali Karaman; Tamer Celik; Ozge Ozalp Yuregir; Timur Yildirim; Ilhan A Bayhan; Eric Boerwinkle; Richard A Gibbs; Nursel Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  J Clin Invest       Date:  2016-01-11       Impact factor: 14.808

3.  Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding.

Authors:  R Brian Lowry; Barbara Sibbald; Tanya Bedard; Judith G Hall
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2010-11-15

4.  Distal arthrogryposis: clinical and genetic findings.

Authors:  Eva Kimber; Homa Tajsharghi; Anna-Karin Kroksmark; Anders Oldfors; Már Tulinius
Journal:  Acta Paediatr       Date:  2012-05-24       Impact factor: 2.299

Review 5.  Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited.

Authors:  Judith G Hall
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2009-08

6.  Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles.

Authors:  Judith G Hall
Journal:  Eur J Med Genet       Date:  2014-04-03       Impact factor: 2.708

7.  Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

Authors:  Anne Michalk; Sigmar Stricker; Jutta Becker; Rosemarie Rupps; Tapio Pantzar; Jan Miertus; Giovanni Botta; Valeria G Naretto; Catrin Janetzki; Nausheen Yaqoob; Claus-Eric Ott; Dominik Seelow; Dagmar Wieczorek; Britta Fiebig; Brunhilde Wirth; Markus Hoopmann; Marisa Walther; Friederike Körber; Markus Blankenburg; Stefan Mundlos; Raoul Heller; Katrin Hoffmann
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

8.  ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks.

Authors:  Gabriela Bindea; Bernhard Mlecnik; Hubert Hackl; Pornpimol Charoentong; Marie Tosolini; Amos Kirilovsky; Wolf-Herman Fridman; Franck Pagès; Zlatko Trajanoski; Jérôme Galon
Journal:  Bioinformatics       Date:  2009-02-23       Impact factor: 6.937

9.  Gene Ontology Consortium: going forward.

Authors: 
Journal:  Nucleic Acids Res       Date:  2014-11-26       Impact factor: 19.160

10.  The Reactome pathway knowledgebase.

Authors:  David Croft; Antonio Fabregat Mundo; Robin Haw; Marija Milacic; Joel Weiser; Guanming Wu; Michael Caudy; Phani Garapati; Marc Gillespie; Maulik R Kamdar; Bijay Jassal; Steven Jupe; Lisa Matthews; Bruce May; Stanislav Palatnik; Karen Rothfels; Veronica Shamovsky; Heeyeon Song; Mark Williams; Ewan Birney; Henning Hermjakob; Lincoln Stein; Peter D'Eustachio
Journal:  Nucleic Acids Res       Date:  2013-11-15       Impact factor: 16.971

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  10 in total

1.  The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Authors:  Davut Pehlivan; Yavuz Bayram; Nilay Gunes; Zeynep Coban Akdemir; Anju Shukla; Tatjana Bierhals; Burcu Tabakci; Yavuz Sahin; Alper Gezdirici; Jawid M Fatih; Elif Yilmaz Gulec; Gozde Yesil; Jaya Punetha; Zeynep Ocak; Christopher M Grochowski; Ender Karaca; Hatice Mutlu Albayrak; Periyasamy Radhakrishnan; Haktan Bagis Erdem; Ibrahim Sahin; Timur Yildirim; Ilhan A Bayhan; Aysegul Bursali; Muhsin Elmas; Zafer Yuksel; Ozturk Ozdemir; Fatma Silan; Onur Yildiz; Osman Yesilbas; Sedat Isikay; Burhan Balta; Shen Gu; Shalini N Jhangiani; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Eric Boerwinkle; Richard A Gibbs; Konstantinos Tsiakas; Maja Hempel; Katta Mohan Girisha; Davut Gul; Jennifer E Posey; Nursel H Elcioglu; Beyhan Tuysuz; James R Lupski
Journal:  Am J Hum Genet       Date:  2019-06-20       Impact factor: 11.025

2.  High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.

Authors:  Joyce So; Venuja Sriretnakumar; Jessica Suddaby; Brianna Barsanti-Innes; Hanna Faghfoury; Timothy Gofine
Journal:  Can J Psychiatry       Date:  2020-06-04       Impact factor: 4.356

3.  Gene Ontology Enrichment Analysis of Renal Agenesis: Improving Prenatal Molecular Diagnosis.

Authors:  Silvia Kalantari; Isabel Filges
Journal:  Mol Syndromol       Date:  2021-08-26

4.  Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Authors:  Jennifer A Wambach; Georg M Stettner; Tobias B Haack; Karin Writzl; Andreja Škofljanec; Aleš Maver; Francina Munell; Stephan Ossowski; Mattia Bosio; Daniel J Wegner; Marwan Shinawi; Dustin Baldridge; Bader Alhaddad; Tim M Strom; Dorothy K Grange; Ekkehard Wilichowski; Robin Troxell; James Collins; Barbara B Warner; Robert E Schmidt; Alan Pestronk; F Sessions Cole; Robert Steinfeld
Journal:  Hum Mutat       Date:  2017-08-17       Impact factor: 4.878

5.  The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.

Authors:  Jie-Yuan Jin; Dan-Yu Liu; Zi-Jun Jiao; Yi Dong; Jie Li; Rong Xiang
Journal:  Biomed Res Int       Date:  2020-05-23       Impact factor: 3.411

6.  International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.

Authors:  Noémi Dahan-Oliel; Sarah Cachecho; Douglas Barnes; Tanya Bedard; Ann M Davison; Klaus Dieterich; Maureen Donohoe; Alicja Fąfara; Reggie Hamdy; Helgi T Hjartarson; Naimisha S Hoffman; Eva Kimber; Igor Komolkin; Ruth Lester; Eva Pontén; Harold J P van Bosse; Judith G Hall
Journal:  Am J Med Genet C Semin Med Genet       Date:  2019-07-07       Impact factor: 3.908

7.  Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.

Authors:  Jill K Tjon; Phillis Lakeman; Elisabeth van Leeuwen; Quinten Waisfisz; Marjan M Weiss; Gita M B Tan-Sindhunata; Peter G J Nikkels; Patrick J P van der Voorn; Gajja S Salomons; George L Burchell; Ingeborg H Linskens; Bloeme J van der Knoop; Johanna I P de Vries
Journal:  Mol Genet Genomic Med       Date:  2021-10-12       Impact factor: 2.183

8.  A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.

Authors:  Dan Wang; Dongjie Hu; Zhichao Guo; Rong Hu; Qunxian Wang; Yannan Liu; Mingjing Liu; Zijun Meng; Huan Yang; Yun Zhang; Fang Cai; Weihui Zhou; Weihong Song
Journal:  Mol Genet Genomic Med       Date:  2019-12-30       Impact factor: 2.183

9.  Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.

Authors:  Theresa Reischer; Sandra Liebmann-Reindl; Dieter Bettelheim; Sukirthini Balendran-Braun; Berthold Streubel
Journal:  Prenat Diagn       Date:  2020-09-10       Impact factor: 3.050

10.  A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

Authors:  Xenia Latypova; Stefan Giovanni Creadore; Noémi Dahan-Oliel; Anxhela Gjyshi Gustafson; Steven Wei-Hung Hwang; Tanya Bedard; Kamran Shazand; Harold J P van Bosse; Philip F Giampietro; Klaus Dieterich
Journal:  Genes (Basel)       Date:  2021-07-08       Impact factor: 4.096

  10 in total

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