Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 5

Results: 14

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 761, doi. 10.1093/hmg/ddab286

By:

Weisschuh, Nicole;
Marino, Valerio;
Schäferhoff, Karin;
Richter, Paul;
Park, Joohyun;
Haack, Tobias B;
Dell'Orco, Daniele

Publication type:

Article

Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 775, doi. 10.1093/hmg/ddab289

By:

Mullin, Nathaniel K;
Anfinson, Kristin R;
Riker, Megan J;
Wieland, Kelsey L;
Tatro, Nicole J;
Scheetz, Todd E;
Mullins, Robert F;
Stone, Edwin M;
Tucker, Budd A

Publication type:

Article

Mycn deficiency underlies the development of orofacial clefts in mice and humans.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 803, doi. 10.1093/hmg/ddab288

By:

Yang, Ruihuan;
Li, Ruyi;
Huang, Zhuo;
Zuo, Yining;
Yue, Haitang;
Wu, Hailin;
Gu, Fan;
Wang, Fei;
He, Miao;
Bian, Zhuan

Publication type:

Article

Relationship between glucose homeostasis and obesity in early life—a study of Italian children and adolescents.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 816, doi. 10.1093/hmg/ddab287

By:

Balkhiyarova, Zhanna;
Luciano, Rosa;
Kaakinen, Marika;
Ulrich, Anna;
Shmeliov, Aleksey;
Bianchi, Marzia;
Chioma, Laura;
Dallapiccola, Bruno;
Prokopenko, Inga;
Manco, Melania

Publication type:

Article

α-synuclein inhibits Snx3-retromer retrograde trafficking of the conserved membrane-bound proprotein convertase Kex2 in the secretory pathway of Saccharomyces cerevisiae.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 705, doi. 10.1093/hmg/ddab284

By:

Rajasekaran, Santhanasabapathy;
Peterson, Patricia P;
Liu, Zhengchang;
Robinson, Lucy C;
Witt, Stephan N

Publication type:

Article

Enhanced glycolysis and GSK3 inactivation promote brain metabolic adaptations following neuronal mitochondrial stress.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 692, doi. 10.1093/hmg/ddab282

By:

Garcia, Sofia;
Saldana-Caboverde, Amy;
Anwar, Mir;
Raval, Ami Pravinkant;
Nissanka, Nadee;
Pinto, Milena;
Moraes, Carlos Torres;
Diaz, Francisca

Publication type:

Article

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 733, doi. 10.1093/hmg/ddab278

By:

Smith, Sarah J;
Fabian, Lacramioara;
Sheikh, Adeel;
Noche, Ramil;
Cui, Xiucheng;
Moore, Steven A;
Dowling, James J

Publication type:

Article

Neuroligin-3 and neuroligin-4X form nanoscopic clusters and regulate growth cone organization and size.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 674, doi. 10.1093/hmg/ddab277

By:

Gatford, Nicholas J F;
Deans, P J Michael;
Duarte, Rodrigo R R;
Chennell, George;
Sellers, Katherine J;
Raval, Pooja;
Srivastava, Deepak P

Publication type:

Article

Sarcospan increases laminin-binding capacity of α-dystroglycan to ameliorate DMD independent of Galgt2.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 718, doi. 10.1093/hmg/ddab276

By:

Mamsa, Hafsa;
Stark, Rachelle L;
Shin, Kara M;
Beedle, Aaron M;
Crosbie, Rachelle H

Publication type:

Article

Blood copper and risk of cardiometabolic diseases: a Mendelian randomization study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 783, doi. 10.1093/hmg/ddab275

By:

Jäger, Susanne;
Cabral, Maria;
Kopp, Johannes F;
Hoffmann, Per;
Ng, Esther;
Whitfield, John B;
Morris, Andrew P;
Lind, Lars;
Schwerdtle, Tanja;
Schulze, Matthias B

Publication type:

Article

Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 665, doi. 10.1093/hmg/ddab271

By:

Dazzo, Emanuela;
Nobile, Carlo

Publication type:

Article

GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating α-Klotho levels.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 792, doi. 10.1093/hmg/ddab263

By:

Gergei, Ingrid;
Zheng, Jie;
Andlauer, Till F M;
Brandenburg, Vincent;
Mirza-Schreiber, Nazanin;
Müller-Myhsok, Bertram;
Krämer, Bernhard K;
Richard, Daniel;
Falk, Louise;
Movérare-Skrtic, Sofia;
Ohlsson, Claes;
Smith, George Davey;
März, Winfried;
Voelkl, Jakob;
Tobias, Jonathan H

Publication type:

Article

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250

By:

Lemmers, Richard J L F;
Vliet, Patrick J van der;
Granado, David San Leon;
van der Stoep, Nienke;
Buermans, Henk;
Schendel, Robin van;
Schimmel, Joost;
Visser, Marianne de;
Coster, Rudy van;
Jeanpierre, Marc;
Laforet, Pascal;
Upadhyaya, Meena;
Engelen, Baziel van;
Sacconi, Sabrina;
Tawil, Rabi;
Voermans, Nicol C;
Rogers, Mark;
Maarel, Silvère M van der

Publication type:

Article

genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 5, p. 827, doi. 10.1093/hmg/ddab249

By:

Park, Joseph;
Packard, Elizabeth A;
Levin, Michael G;
Judy, Renae L;
Center, Regeneron Genetics;
Damrauer, Scott M;
Day, Sharlene M;
Ritchie, Marylyn D;
Rader, Daniel J

Publication type:

Article