Results 41 to 50 of about 45,554 (278)

Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function

Neurobiology of Disease, 2016
Intellectual disability encompasses a large set of neurodevelopmental disorders of cognition that are more common in males than females. Although mutations in over 100 X-linked genes associated to intellectual disability have been identified, only a few ...
Arezu Jahani-Asl, Cheng Cheng, Chi Zhang, Azad Bonni   +3 more
doaj   +1 more source

A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone Methylation.

Cell Reports, 2016
Mutations in a number of chromatin modifiers are associated with human neurological disorders. KDM5C, a histone H3 lysine 4 di- and tri-methyl (H3K4me2/3)-specific demethylase, is frequently mutated in X-linked intellectual disability (XLID) patients ...
Shigeki Iwase, Emily Brookes, S. Agarwal, Aimee I. Badeaux, Hikaru Ito, Christina N. Vallianatos, G. S. Tomassy, T. Kasza, Grace Lin, Andrew Thompson, Lei Gu, Kenneth Y. Kwan, Chinfei Chen, M. Sartor, B. Egan, Jun Xu, Yang Shi   +16 more
semanticscholar   +1 more source

Alpha-thalassemia-X-linked intellectual disability syndrome

Definitions, 2020
Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words.

semanticscholar   +1 more source

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Journal of Biological Chemistry, 2017
N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification. The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in ...
A. Willems, M. Gundogdu, M. Kempers, J. Giltay, R. Pfundt, M. Elferink, Bettina F. Loza, J. Fuijkschot, A. Ferenbach, K. V. van Gassen, D. V. van Aalten, D. Lefeber   +11 more
semanticscholar   +1 more source

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

Journal of Biological Chemistry, 2017
O-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that has been implicated in multiple biological processes, including transcription.
K. Vaidyanathan, Tejasvi Niranjan, N. Selvan, C. Teo, M. May, Sneha Patel, B. Weatherly, C. Skinner, J. Opitz, J. Carey, D. Viskochil, J. Gécz, M. Shaw, Yunhui Peng, E. Alexov, Tao Wang, C. Schwartz, L. Wells   +17 more
semanticscholar   +1 more source

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Genetics in Medicine, 2022
PURPOSE WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.
S. Küry, Jinwei Zhang, T. Besnard, A. Caro-Llopis, Xue Zeng, S. Robert, S. S. Josiah, E. Kiziltug, A. Denommé-Pichon, B. Cogné, Adam J. Kundishora, L. Hao, Hong Li, R. Stevenson, R. Louie, W. Deb, E. Torti, V. Vignard, K. McWalter, F. L. Raymond, Farrah Rajabi, E. Ranza, D. Grozeva, S. Coury, X. Blanc, E. Brischoux-Boucher, B. Keren, K. Õunap, K. Reinson, P. Ilves, I. Wentzensen, Eileen Barr, Solveig Heide Guihard, P. Charles, E. G. Seaby, K. Monaghan, M. Rio, Y. van Bever, M. V. van Slegtenhorst, Wendy K. Chung, A. Wilson, D. Quinquis, Flora Bréhéret, K. Retterer, P. Lindenbaum, E. Scalais, Lindsay Rhodes, K. Stouffs, E. Pereira, S. Berger, S. Milla, A. Jaykumar, M. Cobb, Shreyas Panchagnula, P. Duy, M. Vincent, S. Mercier, B. Gilbert-Dussardier, X. Le Guillou, S. Audebert‐Bellanger, S. Odent, S. Schmitt, P. Boisseau, D. Bonneau, A. Toutain, E. Colin, L. Pasquier, R. Redon, A. Bouman, J. Rosenfeld, M. Friez, Helena Perez-Pena, Syed Raza Akhtar Rizvi, S. Haider, S. Antonarakis, C. Schwartz, F. Martínez, S. Bézieau, K. Kahle, B. Isidor   +79 more
semanticscholar   +1 more source

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

Brain Sciences, 2021
Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal abnormalities are diagnostic features.
Mariateresa Di Stazio, Stefania Bigoni, Nicola Iuso, Josef Vuch, Rita Selvatici, Sheila Ulivi, Pio Adamo d’Adamo   +6 more
doaj   +1 more source

EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO

Human Mutation, 2017
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded‐protein response has been identified as a cause of several multisystemic syndromes.
M. Škopková, F. Hennig, B. Shin, C. Turner, D. Staníková, K. Brennerová, J. Stanik, Ute Fischer, L. Henden, U. Müller, D. Steinberger, E. Leshinsky‐Silver, A. Bottani, T. Kurdiová, J. Ukropec, O. Nyitrayová, M. Kolníková, I. Klimeš, G. Borck, M. Bahlo, S. Haas, Joo-Ran Kim, Leda E. Lotspeich‐Cole, D. Gašperíková, T. Dever, V. Kalscheuer   +25 more
semanticscholar   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

A Novel Hemizygous Variant in the AFF2 Gene Causing Fragile XE (FRAXE) Syndrome: First Report from Pakistan

Pakistan Journal of Medical Research, 2021
Background: Fragile XE (FRAXE) is an X-linked recessive condition that affects 1 in 50,000 of new born males with intellectual disability (ID). It is characterized by mild Intellectual disability (ID), speech delay cognitive impairment, and in some ...
Iftikhar Ahmed, Muhammad Ilyas, Gaurav V Harlalka, Asif Mir   +3 more
doaj   +2 more sources