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Select item 110188411.

MET is a new confirmed gene responsible for familial distal arthrogryposis

Debora Maffeo, Anna Carrer, Angela Rina, Loredaria Adamo, Caterina Lo Rizzo, Mirella Bruttini, Alessandra Renieri, Francesca Mari

EMBO Mol Med. 2024 Apr; 16(4): 720–722. Published online 2024 Mar 1. doi: 10.1038/s44321-024-00044-y

PMCID:: PMC11018841

Abstract Article PDF–774K

Select item 109111112.

A mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans

Xiaofei Bai, Harold E. Smith, Luis O. Romero, Briar Bell, Valeria Vásquez, Andy Golden

Development. 2024 Feb 15; 151(4): dev202214. Published online 2024 Feb 13. doi: 10.1242/dev.202214

PMCID:: PMC10911111

Abstract Article

Select item 104020713.

Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in Caenorhabditis elegans

Xiaofei Bai, Harold E. Smith, Luis O Romero, Briar Bell, Valeria Vásquez, Andy Golden

Version 1. bioRxiv. Preprint. 2023 Jul 24. doi: 10.1101/2023.07.24.550416

Published in:: Development. 2024 Feb 15; 151(4): dev202214.

PMCID:: PMC10402071

Abstract Article

Select item 103451604.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Anthony J. Marcello, Hernan Gonorazky, Lili-Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Á Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, Kailyn Anderson, University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research, Michael Regnier, Michael J. Bamshad

HGG Adv. 2023 Jul 13; 4(3): 100213. Published online 2023 Jun 15. doi: 10.1016/j.xhgg.2023.100213

PMCID:: PMC10345160

Abstract Article PDF–3.9M

Select item 100343685.

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Ivana Dabaj, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Dominique P. Germain

Front Genet. 2022; 13: 955041. Published online 2023 Mar 9. doi: 10.3389/fgene.2022.955041

PMCID:: PMC10034368

Abstract Article PDF–2.0M

Select item 100290156.

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Version 1. medRxiv. Preprint. 2023 Mar 9. doi: 10.1101/2023.03.07.23286862

Published in:: HGG Adv. 2023 Jul 13; 4(3): 100213.

PMCID:: PMC10029015

Abstract Article PDF–6.4M

Select item 99826677.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis

Felix Boschann, Muhsin Ö. Cogulu, Davut Pehlivan, Saranya Balachandran, Pedro Vallecillo-Garcia, Christopher M. Grochowski, Nils R. Hansmeier, Zeynep H. Coban Akdemir, Cesar A. Prada-Medina, Ayca Aykut, Björn Fischer-Zirnsak, Simon Badura, Burak Durmaz, Ferda Ozkinay, René Hägerling, Jennifer E. Posey, Sigmar Stricker, Gabriele Gillessen-Kaesbach, Malte Spielmann, Denise Horn, Knut Brockmann, James R. Lupski, Uwe Kornak, Julia Schmidt

Genet Med. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Genet Med. 2022 Oct; 24(10): 2187–2193. Published online 2022 Aug 13. doi: 10.1016/j.gim.2022.07.012

Correction in:: Genet Med. 2023 Feb 28 : 100799.

PMCID:: PMC9982667

Abstract Article PDF–435K

Select item 97475628.

A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family

Yue Li, Tianying Nong, Yiqiang Li, Xia Li, Zhaohui Li, Hui Lv, Hongwen Xu, Jingchun Li, Mingwei Zhu

Mol Genet Genomic Med. 2022 Dec; 10(12): e2042. Published online 2022 Sep 7. doi: 10.1002/mgg3.2042

PMCID:: PMC9747562

Abstract Article PDF–963K

Select item 93722509.

TTN as a candidate gene for distal arthrogryposis type 10 pathogenesis

Anik Biswas, Sudipta Deb Nath, Tamim Ahsan, M. Monir Hossain, Sharif Akhteruzzaman, Abu Ashfaqur Sajib

J Genet Eng Biotechnol. 2022 Dec; 20: 119. Published online 2022 Aug 11. doi: 10.1186/s43141-022-00405-5

PMCID:: PMC9372250

Abstract Article PDF–3.7M

Select item 933615610.

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene

Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

Ital J Pediatr. 2022; 48: 133. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01329-z

PMCID:: PMC9336156

Abstract Article PDF–990K

Select item 864934611.

The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3

Jinfang Lu, Huanzheng Li, He Zhang, Zhengxiu Lin, Chenyang Xu, Xueqin Xu, Lin Hu, Zhaotang Luan, Yongliang Lou, Shaohua Tang

J Clin Lab Anal. 2021 Dec; 35(12): e24089. Published online 2021 Nov 11. doi: 10.1002/jcla.24089

PMCID:: PMC8649346

Abstract Article PDF–1005K

Select item 853469612.

Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

Akshata Huddar, Kiran Polavarapu, Veeramani Preethish-Kumar, Mainak Bardhan, Gopikrishnan Unnikrishnan, Saraswati Nashi, Seena Vengalil, Priyanka Priyadarshini, Karthik Kulanthaivelu, Gautham Arunachal, Hanns Lochmüller, Atchayaram Nalini

Children (Basel) 2021 Oct; 8(10): 909. Published online 2021 Oct 13. doi: 10.3390/children8100909

PMCID:: PMC8534696

Abstract Article PDF–964K

Select item 823456513.

Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome

Julia Whittle, Aaron Johnson, Matthew B. Dobbs, Christina A. Gurnett

Genes (Basel) 2021 Jun; 12(6): 943. Published online 2021 Jun 20. doi: 10.3390/genes12060943

PMCID:: PMC8234565

Abstract Article PDF–1.2M

Select item 792432414.

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D

Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi

Int J Mol Sci. 2021 Feb; 22(4): 2106. Published online 2021 Feb 20. doi: 10.3390/ijms22042106

PMCID:: PMC7924324

Abstract Article PDF–2.4M

Select item 764536815.

MYH3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin

Julia Whittle, Lilian Antunes, Mya Harris, Zachary Upshaw, Diane S Sepich, Aaron N Johnson, Mayssa Mokalled, Lilianna Solnica‐Krezel, Matthew B Dobbs, Christina A Gurnett

EMBO Mol Med. 2020 Nov 6; 12(11): e12356. Published online 2020 Oct 5. doi: 10.15252/emmm.202012356

PMCID:: PMC7645368

Abstract Article PDF–2.4M

Select item 742970216.

Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism

Yiming Guo, William A. Kronert, Karen H. Hsu, Alice Huang, Floyd Sarsoza, Kaylyn M. Bell, Jennifer A. Suggs, Douglas M. Swank, Sanford I. Bernstein

Skelet Muscle. 2020; 10: 24. Published online 2020 Aug 15. doi: 10.1186/s13395-020-00241-6

PMCID:: PMC7429702

Abstract Article PDF–2.9M

Select item 741388917.

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Jessica X. Chong, Jared C. Talbot, Emily M. Teets, Samantha Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh-Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben-Omran, Fatima Almusafri, Mariam Al-Mulla, Kati J. Buckingham, Tamar Harel, Hagar Mor-Shaked, Periyasamy Radhakrishnan, Katta M. Girisha, Shalini S. Nayak, Anju Shukla, Klaus Dieterich, Julien Faure, John Rendu, Yline Capri, Xenia Latypova, Deborah A. Nickerson, David M. Warshaw, Paul M.L. Janssen, University of Washington Center for Mendelian Genomics, Sharon L. Amacher, Michael J. Bamshad

Am J Hum Genet. 2020 Aug 6; 107(2): 293–310. Published online 2020 Jul 23. doi: 10.1016/j.ajhg.2020.06.014

PMCID:: PMC7413889

Abstract Article PDF–2.7M

Select item 733001618.

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome – An Overview

Darshini Desai, Danielle Stiene, Taejeong Song, Sakthivel Sadayappan

Front Physiol. 2020; 11: 689. Published online 2020 Jun 25. doi: 10.3389/fphys.2020.00689

PMCID:: PMC7330016

Abstract Article PDF–1.2M

Select item 727348419.

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

Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, Yi Dong, Jie Li, Rong Xiang

Biomed Res Int. 2020; 2020: 2149342. Published online 2020 May 23. doi: 10.1155/2020/2149342

PMCID:: PMC7273484

Abstract Article PDF–1.0M

Select item 696582520.

A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I

Jie-Yuan Jin, Pan-Feng Wu, Liang-Liang Fan, Fang Yu, Jing-Jing Li, Xue-Feng Fan, Hao Huang, Lei Zeng, Ju-Yu Tang, Rong Xiang

Int J Clin Exp Pathol. 2017; 10(11): 11137–11142. Published online 2017 Nov 1.

PMCID:: PMC6965825

Abstract Article PDF–618K

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