Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 9

Results: 14

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1537, doi. 10.1093/hmg/ddaa078

By:

Huang, Yan;
Mao, Xiao;
Jaarsveld, Richard H van;
Shu, Li;
Terhal, Paulien A;
Jia, Zhengjun;
Xi, Hui;
Peng, Ying;
Yan, Huiming;
Yuan, Shan;
Li, Qibin;
Wang, Hua;
Bellen, Hugo J

Publication type:

Article

Tbx5 inhibits hedgehog signaling in determination of digit identity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1405, doi. 10.1093/hmg/ddz185

By:

Xu, Huiting;
Xiang, Menglan;
Qin, Yushu;
Cheng, Henghui;
Chen, Duohua;
Fu, Qiang;
Zhang, Ke K;
Xie, Linglin

Publication type:

Article

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1568, doi. 10.1093/hmg/ddaa081

By:

Dutta, Debdeep;
Briere, Lauren C;
Kanca, Oguz;
Marcogliese, Paul C;
Walker, Melissa A;
High, Frances A;
Vanderver, Adeline;
Krier, Joel;
Carmichael, Nikkola;
Callahan, Christine;
Taft, Ryan J;
Simons, Cas;
Helman, Guy;
Network, Undiagnosed Diseases;
Wangler, Michael F;
Yamamoto, Shinya;
Sweetser, David A;
Bellen, Hugo J

Publication type:

Article

A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1520, doi. 10.1093/hmg/ddaa075

By:

Lezirovitz, Karina;
Vieira-Silva, Gleiciele A;
Batissoco, Ana C;
Levy, Débora;
Kitajima, Joao P;
Trouillet, Alix;
Ouyang, Ellen;
Zebarjadi, Navid;
Sampaio-Silva, Juliana;
Pedroso-Campos, Vinicius;
Nascimento, Larissa R;
Sonoda, Cindy Y;
Borges, Vinícius M;
Vasconcelos, Laura G;
Beck, Roberto M O;
Grasel, Signe S;
Jagger, Daniel J;
Grillet, Nicolas;
Bento, Ricardo F;
Mingroni-Netto, Regina C

Publication type:

Article

Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1547, doi. 10.1093/hmg/ddaa077

By:

Liu, Yi-Ting;
Huang, Xiaoping;
Nguyen, Diana;
Shammas, Mario K;
Wu, Beverly P;
Dombi, Eszter;
Springer, Danielle A;
Poulton, Joanna;
Sekine, Shiori;
Narendra, Derek P

Publication type:

Article

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1489, doi. 10.1093/hmg/ddaa073

By:

Harel, Tamar;
Griffin, John N;
Arbogast, Thomas;
Monroe, Tanner O;
Palombo, Flavia;
Martinelli, Marcella;
Seri, Marco;
Pippucci, Tommaso;
Elpeleg, Orly;
Katsanis, Nicholas

Publication type:

Article

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1476, doi. 10.1093/hmg/ddaa071

By:

Boel, Annekatrien;
Burger, Joyce;
Vanhomwegen, Marine;
Beyens, Aude;
Renard, Marjolijn;
Barnhoorn, Sander;
Casteleyn, Christophe;
Reinhardt, Dieter P;
Descamps, Benedicte;
Vanhove, Christian;
van der Pluijm, Ingrid;
Coucke, Paul;
Willaert, Andy;
Essers, Jeroen;
Callewaert, Bert

Publication type:

Article

Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1465, doi. 10.1093/hmg/ddaa069

By:

Oliveira, Danyllo;
Morales-Vicente, David A;
Amaral, Murilo S;
Luz, Livia;
Sertié, Andrea L;
Leite, Felipe S;
Navarro, Claudia;
Kaid, Carolini;
Esposito, Joyce;
Goulart, Ernesto;
Caires, Luiz;
Alves, Luciana M;
Melo, Uirá S;
Figueiredo, Thalita;
Mitne-Neto, Miguel;
Okamoto, Oswaldo K;
Verjovski-Almeida, Sergio;
Zatz, Mayana

Publication type:

Article

Functions of Gtf2i and Gtf2ird1 in the developing brain: transcription, DNA binding and long-term behavioral consequences.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1498, doi. 10.1093/hmg/ddaa070

By:

Kopp, Nathan D;
Nygaard, Kayla R;
Liu, Yating;
McCullough, Katherine B;
Maloney, Susan E;
Gabel, Harrison W;
Dougherty, Joseph D

Publication type:

Article

Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1580, doi. 10.1093/hmg/ddaa067

By:

Maynard, Thomas M;
Horvath, Anelia;
Bernot, James P;
Karpinski, Beverly A;
Tavares, Andre L P;
Shah, Ankita;
Zheng, Qianqian;
Spurr, Liam;
Olender, Jacqueline;
Moody, Sally A;
Fraser, Claire M;
LaMantia, Anthony-S;
Lee, Norman H

Publication type:

Article

Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1454, doi. 10.1093/hmg/ddaa063

By:

Yang, Tien-Chun;
Yarmishyn, Aliaksandr A;
Yang, Yi-Ping;
Lu, Pin-Chen;
Chou, Shih-Jie;
Wang, Mong-Lien;
Lin, Tai-Chi;
Hwang, De-Kuang;
Chou, Yu-Bai;
Chen, Shih-Jen;
Yu, Wei-Kuang;
Wang, An-Guor;
Hsu, Chih-Chien;
Chiou, Shih-Hwa

Publication type:

Article

Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3′UTR RNA.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1440, doi. 10.1093/hmg/ddaa060

By:

Yadava, Ramesh S;
Yu, Qing;
Mandal, Mahua;
Rigo, Frank;
Bennett, C Frank;
Mahadevan, Mani S

Publication type:

Article

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1426, doi. 10.1093/hmg/ddaa051

By:

Woldegebriel, Rosa;
Kvist, Jouni;
Andersson, Noora;
Õunap, Katrin;
Reinson, Karit;
Wojcik, Monica H;
Bijlsma, Emilia K;
Hoffer, Mariëtte J V;
Ryan, Monique M;
Stark, Zornitza;
Walsh, Maie;
Cuppen, Inge;
Boogaard, Marie-Jose´ H van den;
Bharucha-Goebel, Diana;
Donkervoort, Sandra;
Winchester, Sara;
Zori, Roberto;
Bönnemann, Carsten G;
Maroofian, Reza;
O'Connor, Emer

Publication type:

Article

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 9, p. 1417, doi. 10.1093/hmg/ddaa041

By:

Smith, Claire E L;
Whitehouse, Laura L E;
Poulter, James A;
Hewitt, Laura Wilkinson;
Nadat, Fatima;
Jackson, Brian R;
Manfield, Iain W;
Edwards, Thomas A;
Rodd, Helen D;
Inglehearn, Chris F;
Mighell, Alan J

Publication type:

Article