Zobrazeno 1 - 10
of 1 349
pro vyhledávání: '"Autosomal dominant inheritance"'
Autor:
Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, Antonino Musumeci, Valeria Todaro, Concetta Federico, Salvatore Saccone, Maurizio Elia, Francesco Calì
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract E3 ubiquitin protein ligase encoded by ARIH2 gene catalyses the ubiquitination of target proteins and plays a crucial role in posttranslational modifications across various cellular processes. As prior documented, mutations in genes involved
Externí odkaz:
https://doaj.org/article/afe92c20c5f64e3f9faef09770125098
Autor:
Barbara Katra, Magdalena Szopa
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
Monogenic diabetes accounts for 5% of all incidence of hyperglycemia and Maturity Onset Diabetes of the Young (MODY) is the most common form. In GCK-MODY, one of the most common forms of MODY, hyperglycemia is caused by a mutation of a gene responsib
Externí odkaz:
https://doaj.org/article/1caa7af94ff840c1bd249f1e511dda9a
Autor:
Margareta Fistrek Prlic, Sanda Huljev Frkovic, Bodo Beck, Ivana Tonkovic Durisevic, Stela Bulimbasic, Marijana Coric, Lovro Lamot, Ema Ivandic, Ivana Vukovic Brinar
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionGenetic kidney diseases are underdiagnosed; namely, from 7% to 40% of patients suffering from chronic kidney disease (CKD) can carry a pathogenic variant, depending on population characteristics. Hereditary tubulointerstitial kidney disea
Externí odkaz:
https://doaj.org/article/87de7d133de64c65a9214404dda0a93a
Akademický článek
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Akademický článek
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Publikováno v:
BMC Ophthalmology, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia p
Externí odkaz:
https://doaj.org/article/70e99b1282c7406e946b45b6ffcce3ab
Autor:
Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1616 (2023)
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a heari
Externí odkaz:
https://doaj.org/article/a2fe1e0975ec4b3fa4f79ace85c4274a
Autor:
V. S. Fedorova, A. G. Smochilin, A. I. Kulyakhtin, A. A. Yakovlev, M. S. Pushkaryov, A. V. Gavrichenko, E. A. Gavrilova, R. A. Gapeshin
Publikováno v:
Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова, Vol 27, Iss 2, Pp 63-71 (2020)
Charcot — Marie — Tooth disease belongs to a genetically heterogeneous group of monogenic diseases with a predominant lesion of the peripheral nervous system associated with predominant degeneration of the myelin sheath and/or axon of the motor a
Externí odkaz:
https://doaj.org/article/eafafeffb7a94ec3a063fb73ab121f82
Publikováno v:
Journal of IMAB, Vol 26, Iss 3, Pp 3245-3250 (2020)
Purpose: Epidermolysis bullosa pruriginosa (EBP) is a rare clinical subtype of inherited Epidermolysis bullosa dystrophica (EBD). It is characterized by severe itching and hypertrophic papules affecting the extensor surfaces of the extremities. Mate
Externí odkaz:
https://doaj.org/article/989a1d9d1384446598239c89576b171f
Publikováno v:
BMC Ophthalmology, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. Methods The recruited family members underwent comprehensive routine a
Externí odkaz:
https://doaj.org/article/033dccc0df6e44028d9a7369e27dac39