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

open access: yesThe 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   +5 more
doaj   +1 more source

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

open access: yesCase 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]

open access: bronze, 1969
Barbara Shaffer   +2 more
openalex   +1 more source

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

open access: yesPlatelets, 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   +7 more
doaj   +1 more source

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

open access: yesCell Reports, 2016
Disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription, coordinated secondary pathway alterations, and increased transcriptional noise.
Adam Shlien   +36 more
doaj   +1 more source

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

open access: bronze, 1976
R. M. Winslow   +5 more
openalex   +1 more source

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

open access: yesJournal 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   +4 more
semanticscholar   +1 more source

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

open access: yesMolecular 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   +4 more
doaj   +1 more source

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

open access: yesTherapeutic 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   +3 more
doaj   +1 more source

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