Results 121 to 130 of about 1,404,124 (275)

Exposing the human nude phenotype [4] [PDF]

, 1999
Peer reviewedSubmitted ...
Ahmad, W., Aita, V. M., Baden, H., Brissette, J. L., Christiano, A. M., Cserhalmi-Friedman, P. B., Frank, J., Gaetaniello, L., Gordon, D., Ott, J., Panteleyev, A. A., Pignata, C., Pozzi, N., Prowse, David M., Uyttendaele, H., Weiner, L.   +15 more
core   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

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

Connexin40 nonsense mutation in familial atrial fibrillation

International Journal of Molecular Medicine, 2010
Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with substantial morbidity and mortality. Genetic variants play important roles in the pathogenesis of AF. However, AF is a genetically heterogeneous disorder, and the genetic determinants in most patients with AF remain to be identified.
Hai-Feng Shi, Hong-Wei Tan, Wei-Feng Jiang, Xin-hua Wang, Wei-Yi Fang, Xu Liu, Xian-Ling Zhang, Yi-Qing Yang   +7 more
openaire   +3 more sources

NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]

, 2013
Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S, Kurzrock, Razelle, Schroeder, Rebecca Dunbar   +2 more
core   +3 more sources

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

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

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

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