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Language : undetermined Subject : 0301 basic medicine Subject : adolescent Subject : chromosome deletion Subject : female Subject : genes, x-linked Filter by : Title

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Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability

Authors : Li Ping He; Jinwei Zhu; Lin Lin

Subjects: Scaffold protein; Cell signaling; X-linked intellectual disability

Source: Biochemical Journal. 477:4623-4634

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Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability

Authors : Veronica M. Pravata; Villo Muha; Mehmet Gundogdu

Subjects: Neurogenesis; N-Acetylglucosaminyltransferases; Biochemistry

Source: Proceedings of the National Academy of Sciences of the United States of America

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Authors : Kees E. P. van Roozendaal; Molka Kammoun; Michael Field ...

Subjects: Male; 0301 basic medicine; X-linked intellectual disability

Source: Molecular Psychiatry, 24(11), 1748-1768. Nature Publishing GroupMolecular PsychiatryMol PsychiatryMol Psychiatry, 2019, 24 (11), pp.1748-1768. ⟨10.1038/s41380-018-0065-

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Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Authors : Zeineb Zian; Renaud Touraine; Naima Ghailani Nourouti

Subjects: 0301 basic medicine; Male; X-linked intellectual disability

Source: BMC Research NotesBMC Research Notes, Vol 14, Iss 1, Pp 1-5 (2021)

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Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene

Authors : R.G. Gamirova; A.I. Barkov; V.A. Shaimuchametova

Subjects: Male; Epilepsy; Adolescent

Source: Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 122:14

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O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

Authors : Nithya Selvan; Shawn Levy; Charles E. Schwartz

Subjects: 0301 basic medicine; Genetics; education.field_of_study

Source: Journal of Biological Chemistry

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A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility

Authors : Patrizia D'Adamo; Vincenza S Delvecchio; Fabrizia C. Guarnieri ...

Subjects: 0301 basic medicine; X-linked intellectual disability; Animals

Source: Human Molecular Genetics. 26:4699-4714

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Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability

Authors : Olivera Spasic-Boskovic; F. Lucy Raymond; Christina Bitsara ...

Subjects: 0301 basic medicine; lcsh:QH426-470; X-linked intellectual disability

Source: Frontiers in GeneticsFrontiers in Genetics, Vol 10 (2019)

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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Authors : Hilde Van Esch; Alena Zablotskaya; Kevin J. Verstrepen

Subjects: Male; Expansion; 0301 basic medicine

Source: BMC Medical GenomicsBMC Medical Genomics, Vol 11, Iss 1, Pp 1-17 (2018)

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The X-linked intellectual disability gene product and E3 ubiquitin ligase KLHL15 degrades doublecortin proteins to constrain neuronal dendritogenesis

Authors : Ronald A. Merrill; Andrew Y. Usachev; Jianing Song

Subjects: Doublecortin Domain Proteins; 0301 basic medicine; proteasomal degradation

Source: The Journal of Biological Chemistry

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