Results 101 to 110 of about 1,408,561 (234)

Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation

The Turkish Journal of Pediatrics, 2017
Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy.
Osman Yeşilbaş, Esra Şevketoğlu, Mey Talip Petmezci, Hasan Serdar Kıhtır, Meryem Benzer, Afig Berdeli   +5 more
doaj   +1 more source

LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient

Case Reports in Genetics, 2018
Congenital muscle dystrophies (CMD) are genetically and clinically heterogeneous hereditary myopathies mainly with autosomal recessive type of inheritance.
Ivanka Dimova, Ivo Kremensky
doaj   +1 more source

NONSENSE MUTATIONS AFFECTING THE his4 ENZYME COMPLEX OF YEAST [PDF]

, 1969
Barbara Shaffer, Joanna Rytka, Gerald R. Fink   +2 more
openalex   +1 more source

A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome

Platelets, 2018
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS.
Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan   +7 more
doaj   +1 more source

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

Cell Reports, 2016
Disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription, coordinated secondary pathway alterations, and increased transcriptional noise.
Adam Shlien, Keiran Raine, Fabio Fuligni, Roland Arnold, Serena Nik-Zainal, Serge Dronov, Lira Mamanova, Andrej Rosic, Young Seok Ju, Susanna L. Cooke, Manasa Ramakrishna, Elli Papaemmanuil, Helen R. Davies, Patrick S. Tarpey, Peter Van Loo, David C. Wedge, David R. Jones, Sancha Martin, John Marshall, Elizabeth Anderson, Claire Hardy, Violetta Barbashina, Samuel A.J.R. Aparicio, Torill Sauer, Øystein Garred, Anne Vincent-Salomon, Odette Mariani, Sandrine Boyault, Aquila Fatima, Anita Langerød, Åke Borg, Gilles Thomas, Andrea L. Richardson, Anne-Lise Børresen-Dale, Kornelia Polyak, Michael R. Stratton, Peter J. Campbell   +36 more
doaj   +1 more source

Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain. [PDF]

, 1976
R. M. Winslow, M L Swenberg, Eva Groß, P. A. Chervenick, Robert R. Buchman, W.F. Anderson   +5 more
openalex   +1 more source

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

Journal of Human Genetics, 2011
Synpolydactyly 1 (SPD1; OMIM 186000), also known as type II syndactyly, is a dominantly inherited limb malformation that is characterized by an increased number of digits. SPD1 is most commonly caused by polyalanine repeat expansions in the coding region
M. Kurban, M. Wajid, L. Petukhova, Y. Shimomura, A. Christiano   +4 more
semanticscholar   +1 more source

A novel mutation in the leptin gene (W121X) in an Egyptian family

Molecular Genetics and Metabolism Reports, 2014
Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c ...
Inas Mazen, Khalda Amr, Sally Tantawy, I. Sadaf Farooqi, Mona El Gammal   +4 more
doaj   +1 more source

beta 0 thalassemia, a nonsense mutation in man. [PDF]

, 1979
Judy C. Chang, Y Kan
openalex   +1 more source

Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy

Therapeutic Advances in Neurological Disorders, 2010
Duchenne muscular dystrophy (DMD) is the most common, lethal, X-linked genetic disease, affecting 1 in 3500 newborn males. It is caused by mutations in the DMD gene.
Vinod Malik, Louise R. Rodino-Klapac, Laurence Viollet, Jerry R. Mendell   +3 more
doaj   +1 more source