Zobrazeno 1 - 10
of 881
pro vyhledávání: '"Hereditary disease"'
Autor:
Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-min Hao
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Purpose The objective of this study is to assess the carrier frequency and pathogenic variation of monogenetic diseases in a population of 114 subjects in Han Chinese from Hebei province who are undergoing assisted reproductive technology th
Externí odkaz:
https://doaj.org/article/13744d62bc9b491fba3002fb3470c08c
Autor:
Gabriel Utida Eguchi, Mariana Isa Poci Palumbo, Fabrício Moreira Cerri, Roberta Martins Basso, José Paes de Oliveira-Filho, Silvana Marques Caramalac, Alexandre Secorun Borges
Publikováno v:
Frontiers in Veterinary Science, Vol 11 (2024)
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump. Additionally, myo
Externí odkaz:
https://doaj.org/article/1e67bfeba0864dc79d09a5d215576346
Autor:
Madgwick, Philip G.
Publikováno v:
Maladaptation: Natural Selection in the Wrong Direction?.
Externí odkaz:
https://doi.org/10.1093/9780191966767.003.0001
Publikováno v:
Acta Medica Bulgarica, Vol 51, Iss s1, Pp 1-4 (2024)
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected. Mo
Externí odkaz:
https://doaj.org/article/2b44acace22b4ad4bb20653baada86da
Publikováno v:
MedComm, Vol 5, Iss 10, Pp n/a-n/a (2024)
Abstract Copper is a vital trace element in human physiology, essential for the synthesis of numerous crucial metabolic enzymes and facilitation of various biological processes. Regulation of copper levels within a narrow range is imperative for main
Externí odkaz:
https://doaj.org/article/739ae45dd29343fbb9aae775c7f158a0
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionHearing loss is one of the most prevalent congenital sensory disorders. Over 50% of congenital hearing loss cases are attributed to genetic factors. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q, which plays an import
Externí odkaz:
https://doaj.org/article/c1f5e88bfb304a6fbf4f9b6f44ac82f8
Autor:
Kazutoshi Okamoto, Hitomi Matsunari, Kazuaki Nakano, Kazuhiro Umeyama, Koki Hasegawa, Ayuko Uchikura, Shuko Takayanagi, Masahito Watanabe, Jun Ohgane, Michael Stirm, Mayuko Kurome, Nikolai Klymiuk, Masaki Nagaya, Eckhard Wolf, Hiroshi Nagashima
Publikováno v:
Regenerative Therapy, Vol 24, Iss , Pp 451-458 (2023)
Introduction: Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder caused by mutation in the dystrophin gene (DMD) on the X chromosome. Female DMD carriers occasionally exhibit symptoms such as muscle weakness and heart failure. H
Externí odkaz:
https://doaj.org/article/51df675076934a228d6302859f500d01
Autor:
Vanessa Alf, Yvet Opmeer, G. Diane Shelton, Guy C. M. Grinwis, Kaspar Matiasek, Marco Rosati, Paul J. J. Mandigers
Publikováno v:
Animals, Vol 14, Iss 17, p 2519 (2024)
Earlier, we described a breed-specific inflammatory myopathy in Dutch Kooiker dogs (Het Nederlandse Kooikerhondje), one of the nine Dutch breeds. The disease commonly manifests itself with clinical signs of difficulty walking, muscle weakness, exerci
Externí odkaz:
https://doaj.org/article/eb2bf37bd4d648b3adfa219a83458ff4
Autor:
Emi Qian, Masahiro Uemura, Hiroya Kobayashi, Shiho Nakamura, Fumiko Ozawa, Sho Yoshimatsu, Mitsuru Ishikawa, Osamu Onodera, Satoru Morimoto, Hideyuki Okano
Publikováno v:
Inflammation and Regeneration, Vol 43, Iss 1, Pp 1-10 (2023)
Abstract Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is an inherited cerebral small vessel disease (CSVD) caused by biallelic mutations in the high-temperature requirement serine peptidase A1
Externí odkaz:
https://doaj.org/article/f2d5916618a74664bb6b7b4455d350a4
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