Zobrazeno 1 - 10
of 148
pro vyhledávání: '"CLCN2"'
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Background: Leukoencephalopathy and visual impairment have been linked to loss-of-function mutations in the CLCN2 gene (MIM #600570). However, the ocular features caused by the CLCN2 mutations remain poorly understood and seldom reported. This study
Externí odkaz:
https://doaj.org/article/b399560689574edfb22df2e274b3f036
Autor:
Marina Mihaljevic, Max Lam, Carlos Ayala-Grosso, Finn Davis-Batt, David J. Schretlen, Koko Ishizuka, Kun Yang, Akira Sawa
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2023)
“Druggable genome” is a novel concept that emphasizes the importance of using the information of genome-wide genetic studies for drug discovery and development. Successful precedents of “druggable genome” have recently emerged for some disord
Externí odkaz:
https://doaj.org/article/290eb722619049ae9259eb238744b855
Publikováno v:
Clinical Parkinsonism & Related Disorders, Vol 8, Iss , Pp 100189- (2023)
Family Report: Two rare autosomal recessive neurological disorders, leukoencephalopathy with ataxia and spastic paraplegia 56 (SPG56), were found in members of the same family. Two siblings presented with spastic paraplegia, cognitive impairment, bla
Externí odkaz:
https://doaj.org/article/c17ffb03722b42178819be3b8e114f1c
Autor:
Dina Ben Mohamed, Zacharia Saied, Samia Ben Sassi, Mariem Ben Said, Fatma Nabli, Afef Achouri, Cyrine Jeridi, Saber Masmoudi, Rim Amouri
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract CLCN2‐related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC‐2 chloride channel protein wit
Externí odkaz:
https://doaj.org/article/55b76e257380470da80c48b7d37b24da
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Voltage-gated chloride ion channels (CLCs) are transmembrane proteins that maintain chloride ion homeostasis in various cells. Accumulating studies indicated CLCs were related to cell growth, proliferation, and cell cycle. Nevertheless, the role of C
Externí odkaz:
https://doaj.org/article/10551f11752b485f8d0bf1b58da9185e
Publikováno v:
Frontiers in Psychiatry, Vol 11 (2020)
Rare inherited variations in multiplex families with Gilles de la Tourette syndrome (GTS) are suggested to play an important role in the genetic etiology of GTS. In order to explore the rare inherited variations with the risk of GTS, whole-exome sequ
Externí odkaz:
https://doaj.org/article/479f1ff46eee40a1bc831b57cd10085b
Akademický článek
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Publikováno v:
Epileptic Disorders. 23:623-632
OBJECTIVE We aimed to identify new candidate pathogenic genes for atypical Rolandic epilepsy. METHODS We retrospectively evaluated the data from 24 Chinese patients with atypical Rolandic epilepsy who underwent whole-exome sequencing. Data were analy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c359864717ca3863f2ebbd2fc809f2e
https://doi.org/10.1684/epd.2021.1308
https://doi.org/10.1684/epd.2021.1308
Autor:
William E. Rainey, Kazutaka Nanba
Publikováno v:
European Journal of Endocrinology. 185:R1-R11
Primary aldosteronism (PA) is a common cause of secondary hypertension. Recent technological advances in genetic analysis have provided a better understanding of the molecular pathogenesis of this disease. The application of next-generation sequencin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b3af1a76ffde1c86ab1b02ef2bfd609
https://doi.org/10.1530/eje-21-0031
https://doi.org/10.1530/eje-21-0031
Akademický článek
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