Results 101 to 110 of about 1,702,970 (343)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Harrison, R E, Flanagan, J A, Sankelo, M, Abdalla, S A, Rowell, J, Machado, R D, Elliott, C G, Robbins, I M, Olschewski, H, McLaughlin, V, Gruenig, E, Kermeen, F, Halme, M, Räisänen-Sokolowski, A, Laitinen, T, Morrell, N W, Trembath, R C   +16 more
core   +1 more source

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome

Human Mutation, 2013
Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%–25% of BrS patients carry genetic defects that cause loss‐of‐function of the voltage‐gated cardiac sodium channel. Thus, 70%–75% of patients remain without a genetic
Helena Riuró, Pedro Beltran-Alvarez, Anna Tarradas, E. Selga, Ó. Campuzano, M. Vergés, S. Pagans, A. Iglesias, J. Brugada, P. Brugada, Francisco M. Vázquez, G. Pérez, F. Scornik, R. Brugada   +13 more
semanticscholar   +1 more source

Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]

Current Biology, 1999
Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Drotschmann, Karin, Clark, Alan B., Kunkel, Thomas A.   +2 more
openaire   +2 more sources

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Generation of Casp8FL122/123GG Mice Using CRISPR-Cas9 Technology

STAR Protocols, 2020
Summary: The purpose of this protocol is to describe the generation of missense mutations in mice using CRISPR-Cas9 technology. The current protocol focuses on the generation of a Casp8FL122/123GG missense mutation, but it can be adapted to introduce any
Stephane Pelletier, Bart Tummers, Douglas R. Green   +2 more
doaj   +1 more source

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

PLoS ONE, 2013
Inherited thrombocytopenia is a heterogeneous group of disorders characterized by a reduced number of blood platelets. Despite the identification of nearly 20 causative genes in the past decade, approximately half of all subjects with inherited ...
P. Gueguen, Karen Rouault, Jian-Min Chen, O. Raguénès, Y. Fichou, E. Hardy, E. Gobin, Brigitte Pan-petesch, M. Kerbiriou, P. Trouvé, P. Marcorelles, J. Abgrall, C. Le Maréchal, C. Férec   +13 more
semanticscholar   +1 more source

Behavioral Phenotypes of Disc1 Missense Mutations in Mice [PDF]

Neuron, 2007
To support the role of DISC1 in human psychiatric disorders, we identified and analyzed two independently derived ENU-induced mutations in Exon 2 of mouse Disc1. Mice with mutation Q31L showed depressive-like behavior with deficits in the forced swim test and other measures that were reversed by the antidepressant bupropion, but not by rolipram, a ...
Clapcote, S. J., Lipina, T. V., Millar, J. K., Mackie, S., Christie, S., Ogawa, F., Lerch, J. P., Trimble, K., Uchiyama, M., Sakuraba, Y., Kaneda, H., Shiroishi, T., Houslay, M. D., Henkelman, R. M., Sled, J. G., Gondo, Y., Porteous, D. J., Roder, J. C.   +17 more
openaire   +3 more sources

Lysosome‐Acidifying Nanoparticles Rescue A30P α‐Synuclein Induced Neuronal Death in Cellular and Drosophila Models of Parkinson's Disease

Advanced Healthcare Materials, EarlyView.
Lysosome‐targeted acidic nanoparticles based on a biodegradable poly(ethylene tetrafluorosuccinate‐co‐succinate) copolymer are engineered to restore impaired lysosomal acidification through pH‐responsive intracellular degradation. Localized acid release enhances autophagic proteolysis, reduces α‐synuclein accumulation, and preserves dopaminergic neuron
Chih Hung Lo, Mengda Ren, Gavin Wen Zhao Loi, Eka Norfaishanty Saipuljumri, Jonathan Indajang, Kah Leong Lim, Jialiu Zeng   +6 more
wiley   +1 more source