Zobrazeno 1 - 10
of 6 328
pro vyhledávání: '"Clinical Genetics"'
Autor:
Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neon
Externí odkaz:
https://doaj.org/article/4674a37b1dbd413094568f5841ec4ec4
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 892-904 (2024)
Next-generation genome sequencing has revolutionized genetic testing, identifying numerous rare disease-associated gene variants. However, to impute pathogenicity, computational approaches remain inadequate and functional testing of gene variant is r
Externí odkaz:
https://doaj.org/article/d683955f9e6141f5b9b6a1c520c3940f
Autor:
XU Kexin, LI Guozhuang, LI Qing, YIN Xiangjie, FANG Kun, WU Zhihong, ZHANG Jianguo, DISCO (Deciphering Disorders Involving Scoliosis ＆ COmorbidities) Study Group, WU Nan
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 295-303 (2024)
The Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. The clinical and genetic hetero- geneity of EDS frequently leads to unde
Externí odkaz:
https://doaj.org/article/db6025bccc7742379bb0fdaab73a2b71
Autor:
Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, Maha Faden
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of
Externí odkaz:
https://doaj.org/article/dab5608ea1f248e486e4e7a51035729b
Autor:
Chuanwei Wang, Jian Chen, Yanzhao Wang, Ningning Luo, Tiantian Han, Xiangyu Yin, Yunjie Song, Dongsheng Chen, Jie Gong
Publikováno v:
iScience, Vol 27, Iss 11, Pp 111073- (2024)
Summary: Recognizing individuals with Genetic tumor syndromes (GTS) in the primary central nervous system (CNS) tumors is crucial for optimizing proper genetic counseling and improving therapeutics and clinical care. We retrospectively analyzed the G
Externí odkaz:
https://doaj.org/article/2284abc52adb4671ac87aeb61d6dfc5e
Autor:
Victor Marin, Louis Lebreton, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Nonketotic hyperglycinemia (NKH) is a rare, autosomal recessive metabolic disorder usually associated with mutations in genes AMT, GLDC or GCSH involved in the glycine cleavage complex. Other genes have been linked with less severe NKH, associated wi
Externí odkaz:
https://doaj.org/article/ca9a067b673b43a6bdd37600a68c21dd
Autor:
Tatiane Piedade de Souza, Gilderlanio Santana de Araújo, Leandro Magalhães, Giovanna C. Cavalcante, Arthur Ribeiro-dos-Santos, Camille Sena-dos-Santos, Caio Santos Silva, Gracivane Lopes Eufraseo, Alana de Freitas Escudeiro, Giordano Bruno Soares-Souza, Bruno Lopes Santos-Lobato, Ândrea Ribeiro-dos-Santos
Publikováno v:
iScience, Vol 27, Iss 9, Pp 110835- (2024)
Summary: Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson’s disease (PD) that negatively impact the overall well-being of people with this disease. The molecular mechanisms involved in
Externí odkaz:
https://doaj.org/article/2e8809c4b9b7409cb5d58015eae7abd4
Autor:
Sophia Kerns, Katherine A. Owen, Andrea Daamen, Jessica Kain, Amrie C. Grammer, Peter E. Lipsky
Publikováno v:
iScience, Vol 27, Iss 9, Pp 110715- (2024)
Summary: Autoimmune patients have a significantly increased risk of developing coronary artery disease (CAD) compared to the general population. However, autoimmune patients often lack traditional risk factors for CAD and there is increasing recognit
Externí odkaz:
https://doaj.org/article/bde9580fde50487b8ea6aac01995cdf5
Autor:
Haobo Li, Mengjie Duo, Zhu Zhang, Haoyi Weng, Dong Liu, Yu Zhang, Linfeng Xi, Bingzhang Zou, Huiwen Li, Gang Chen, Xianbo Zuo, Kaoru Ito, Wanmu Xie, Peiran Yang, Chen Wang, Zhenguo Zhai
Publikováno v:
iScience, Vol 27, Iss 9, Pp 110671- (2024)
Summary: Previous studies have indicated that various blood cell traits are associated with a higher risk of venous thromboembolism (VTE). However, the causal relationship remains uncertain. We collected data from the China pulmonary thromboembolism
Externí odkaz:
https://doaj.org/article/7817e01212384749901733bfeccd1e21
Publikováno v:
iScience, Vol 27, Iss 9, Pp 110641- (2024)
Summary: Familial hypercholesterolemia (FH) is a genetic disorder that affects 1 in 300 people, leading to high cholesterol levels and significantly increased cardiovascular risk. The limitations of existing FH treatments underscore the need for inno
Externí odkaz:
https://doaj.org/article/1a09025af71f48c3b5162143add5b251