Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Mohr–Tranebjærg syndrome"'
Publikováno v:
Shanghai Jiaotong Daxue xuebao. Yixue ban, Vol 43, Iss 3, Pp 261-268 (2023)
Objective·To explore the hearing phenotype of Timm8a-/- mice and the function of translocase of inner mitochondrial membrane 8A (Timm8a) gene in inner ear by constructing Timm8a gene knockout mice.Methods·Timm8a-/- mice were designed and constructe
Externí odkaz:
https://doaj.org/article/4be8b786fcba4e51a66c7fa7bf9f51c1
Publikováno v:
罕见病研究, Vol 2, Iss 1, Pp 50-54 (2023)
Objective Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked neurodegenerative disorder which usually involving hearing impairment, gradual dystonia, and other symptoms. In this study, we perform analyzed the genetic makeup of a family with this rare
Externí odkaz:
https://doaj.org/article/7c61ab37ccd84edba7b520d0b47a9ee0
Autor:
Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan, Qiuju Wang
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-12 (2019)
Abstract Background Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which
Externí odkaz:
https://doaj.org/article/b37380594aef475eb0753ffa9470a6b0
Autor:
Yu-Hsin Yeh, Meng-Ying Hsieh, Wen-I Lee, Jing-Long Huang, Li-Chen Chen, Kuo-Wei Yeh, Liang-Shiou Ou, Tsung-Chieh Yao, Chao-Yi Wu, Syh-Jae Lin
Publikováno v:
Frontiers in Immunology, Vol 11 (2020)
Background: X-linked agammaglobulinemia (XLA) is caused by a mutation of the Bruton's tyrosine kinase (BTK) gene and is the most common genetic mutation in patients with congenital agammaglobulinemia. The aim of this study was to analyze the clinical
Externí odkaz:
https://doaj.org/article/6cf6e391b2d646059c096be3b0467f12
Autor:
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dyst
Externí odkaz:
https://doaj.org/article/dbd914df64284d34aa13e99f91cafaa9
Autor:
Jing Guan, Ju Yang, Li Wang, Dayong Wang, Jin Li, Linwei Yin, Qiujing Zhang, Qiuju Wang, Lan Lan, Hongyang Wang
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-12 (2019)
BMC Medical Genetics
BMC Medical Genetics
Background Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nuclear TIMM8A gene, which is invol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5e02f55702a5fe939e21d1863cc26a
http://link.springer.com/article/10.1186/s12881-018-0741-3
http://link.springer.com/article/10.1186/s12881-018-0741-3
Autor:
Huizi Guo, Charles G. Eberhart, Sepehr Akhtarkhavari, Akhila Parthasarathy, Eric H. Raabe, Peter Green, Harpreet Kaur
Publikováno v:
Neuro-Oncology
Atypical teratoid rhabdoid tumors (ATRTs) are fatal pediatric brain tumors that warrant improved therapies urgently. ATRTs are characterized by loss of INI1, a subunit of the SWI/SNF chromatin-remodeling complex. ATRTs grow aggressively despite major
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0af38ebb35f1e037e5a1d15b6360050
https://doi.org/10.1093/neuonc/noab090.004
https://doi.org/10.1093/neuonc/noab090.004
Publikováno v:
Journal of Surgical Case Reports
May-Thurner syndrome (MTS) is an unusual cause of deep venous thrombosis; even rarer is the spontaneous rupture of collaterals around the thrombosed common iliac vein due to MTS. We present a case of MTS which presented with left leg swelling and abd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1814e6d2c1909827c1173d7b7b0769
https://doi.org/10.1093/jscr/rjz385
https://doi.org/10.1093/jscr/rjz385
Autor:
Lynda Holloway, Richard Steet, Tonya Moss, Steve A. Skinner, Seok-Ho Yu, Addison Neighbors, Russell P. Saneto, Fran Annese
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, ear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac1a0bbe327f661f5bac002d9d8c8b4
https://doi.org/10.1002/mgg3.1121
https://doi.org/10.1002/mgg3.1121
Autor:
Horst Urbach, Michael Trippel, Bastian Sajonz, Thomas Prokop, Tobias Piroth, Wolfgang H. Jost, Volker A. Coenen, Michel Rijntjes, Peter C. Reinacher
Publikováno v:
Journal of Neurological Surgery Part A: Central European Neurosurgery. 80:044-048
Introduction A 28-year-old man presented with a history of sensorineural deafness since early childhood treated with bilateral cochlear implants (CIs). He showed signs of debilitating dystonia that had been present since puberty. Dystonic symptoms, e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd8ff0aa05f37bca0134f6f8226f044
https://doi.org/10.1055/s-0038-1669472
https://doi.org/10.1055/s-0038-1669472