Zobrazeno 1 - 10
of 234
pro vyhledávání: '"VPS13B"'
Autor:
Gudrun Schottmann, Carmen Martínez Almudéver, Julia C. M. Knop, Eun Kyung Suk, Zianka Meyer, Jürgen Kohlhase, Nastassja Himmelreich, Jirko Kühnisch, Claus-Eric Ott, Wenke Seifert
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionCohen syndrome (CS) is an early-onset pediatric neurodevelopmental disorder characterized by postnatal microcephaly and intellectual disability. An accurate diagnosis for individuals with CS is crucial, particularly for their caretakers a
Externí odkaz:
https://doaj.org/article/82687391224c45b8a7d66b0cc0823b37
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
Cohen Syndrome (CS) is a rare autosomal recessive disorder caused by biallelic mutations in the VPS13B gene. It is characterized by multiple clinical features, including acquired microcephaly, developmental delay, intellectual disability, neutropenia
Externí odkaz:
https://doaj.org/article/8347587b0389489599c9adc38d73534c
Autor:
Hiroki Kimura, Itaru Kushima, Masahiro Banno, Toshiya Inada, Akira Yoshimi, Branko Aleksic, Norio Ozaki
Publikováno v:
Neuropsychopharmacology Reports, Vol 43, Iss 2, Pp 267-271 (2023)
Abstract Background Chromosome 16p13.11 duplication is a well‐known genetic risk factor for schizophrenia (SCZ) (odds ratio = 1.84). However, no case reports focusing on patients with SCZ and 16p13.11 duplication have been published. Therefore, her
Externí odkaz:
https://doaj.org/article/bb12e295793347d598a77a1bcedabd7c
Autor:
Alyssa Zoto, Chelsea Stecklein, Michael A. Scott, Thomas R. Bauer Jr., Cynthia Lucidi, Harry Cridge
Publikováno v:
Journal of Veterinary Internal Medicine, Vol 36, Iss 6, Pp 2170-2176 (2022)
Abstract Trapped neutrophil syndrome is a rare congenital disease recognized in Border Collies and is characterized by persistent neutropenia with myeloid hyperplasia. The mechanism of neutropenia has not been described. We document the case of a you
Externí odkaz:
https://doaj.org/article/8c753085808b43699a0e21176720e377
Publikováno v:
Translational Neuroscience, Vol 14, Iss 1, Pp e3330-4 (2023)
Cohen syndrome (OMIM No. # 216550) is a rare autosomal recessive disorder caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B) gene on chromosome 8q22.2. Clinical manifestations include hypermobile joints, microcephaly,
Externí odkaz:
https://doaj.org/article/9a6824c2db69492d9e9dd5dd8e24b551
Autor:
Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin
Publikováno v:
Neurobiology of Disease, Vol 185, Iss , Pp 106259- (2023)
The vacuolar protein sorting-associated protein 13B (VPS13B) is a large and highly conserved protein. Disruption of VPS13B causes the autosomal recessive Cohen syndrome, a rare disorder characterized by microcephaly and intellectual disability among
Externí odkaz:
https://doaj.org/article/f9f8187efd4345399a21f8121cc60521
Publikováno v:
Asian Journal of Surgery, Vol 46, Iss 12, Pp 5909-5910 (2023)
Externí odkaz:
https://doaj.org/article/d31e8651e1ed4162acaba3a931b52344
Akademický článek
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Autor:
Tatiana A. Shnaider, Anna A. Khabarova, Ksenia N. Morozova, Anastasia M. Yunusova, Sophia A. Yakovleva, Anastasia S. Chvileva, Ekaterina R. Wolf, Elena V. Kiseleva, Elena V. Grigor’eva, Viktori Y. Voinova, Maria A. Lagarkova, Ekaterina A. Pomerantseva, Elizaveta V. Musatova, Alexander V. Smirnov, Anna V. Smirnova, Diana S. Stoklitskaya, Tatiana I. Arefieva, Daria A. Larina, Tatiana V. Nikitina, Inna E. Pristyazhnyuk
Publikováno v:
Cells, Vol 12, Iss 23, p 2702 (2023)
Cohen syndrome is an autosomal recessive disorder caused by VPS13B (COH1) gene mutations. This syndrome is significantly underdiagnosed and is characterized by intellectual disability, microcephaly, autistic symptoms, hypotension, myopia, retinal dys
Externí odkaz:
https://doaj.org/article/46fae80a53d840f5ae947d70a2822115
Publikováno v:
Pharmacogenomics and Personalized Medicine, Vol Volume 14, Pp 1583-1589 (2021)
Xiaoyun Hu, Tao Huang, Yun Liu, Lina Zhang, Li Zhu, Xiaohong Peng, Sufang Zhang Department of Pediatrics, The First Affiliated Hospital of Nanchang University, Nanchang, People’s Republic of ChinaCorrespondence: Tao Huang Tel +86 13970012590Email h
Externí odkaz:
https://doaj.org/article/d34b9c09195548ef8bc624ffe0afb0ff