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Page 1
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan MA, Khan S, Windpassinger C, Badar M, Nawaz Z, Mohammad RM. Khan MA, et al. Ann Hum Genet. 2016 Nov;80(6):342-368. doi: 10.1111/ahg.12176. Ann Hum Genet. 2016. PMID: 27870114 Review.
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of the brain. ...Genetic analysis in autosomal recessive nonsyndrmic ID (ARNSID) has mapped 51 disease loci, 34 of which hav …
Intellectual disability (ID) is a clinical manifestation of the central nervous system without any major dysmorphologies of th …
GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders.
Chompoopong P, Milone M. Chompoopong P, et al. Genes (Basel). 2023 Jan 31;14(2):372. doi: 10.3390/genes14020372. Genes (Basel). 2023. PMID: 36833299 Free PMC article. Review.
Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of alpha-dystroglycan (alpha-DG) and ultimately leads to disruptions of the link between alpha-DG and extracellular proteins, hence dystroglycanopathy. GMPPB-related disorders are inherite …
Impaired GMPPB function reduces the amount of GDP-mannose available for the O-mannosylation of alpha-dystroglycan (alpha-DG) and ultimately …
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
Schurmans S, Vande Catsyne CA, Desmet C, Moës B. Schurmans S, et al. Adv Biol Regul. 2021 Jan;79:100760. doi: 10.1016/j.jbior.2020.100760. Epub 2020 Oct 10. Adv Biol Regul. 2021. PMID: 33060052 Free article. Review.
Recently, mutations in INPP5K have been detected in patients with a rare form of autosomal recessive congenital muscular dystrophy with cataract, short stature and intellectual disability. ...
Recently, mutations in INPP5K have been detected in patients with a rare form of autosomal recessive congenital muscular dystr …
The eye and the skin in nonendocrine metabolic disorders.
Urrets-Zavalía JA, Espósito E, Garay I, Monti R, Ruiz-Lascano A, Correa L, Serra HM, Grzybowski A. Urrets-Zavalía JA, et al. Clin Dermatol. 2016 Mar-Apr;34(2):166-82. doi: 10.1016/j.clindermatol.2015.12.002. Epub 2015 Dec 7. Clin Dermatol. 2016. PMID: 26903184 Review.
Many metabolic disorders consist in congenital enzyme deficiencies, also known as "inborn errors of metabolism," that may be disabling or cause severe illness and death and are predominantly inherited in an autosomal recessive fashion. The deposit in cells and tissu …
Many metabolic disorders consist in congenital enzyme deficiencies, also known as "inborn errors of metabolism," that may be disabling or ca …
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M, Bruel AL, Crenshaw ML, Delanne J, Wentzensen IM, McWalter K, Dent KM, Vitobello A, Kuentz P, Thevenon J, Duffourd Y, Thauvin-Robinet C, Faivre L. Assoum M, et al. Am J Med Genet A. 2020 Apr;182(4):792-797. doi: 10.1002/ajmg.a.61487. Epub 2020 Jan 18. Am J Med Genet A. 2020. PMID: 31953988 Review.
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consanguineous family comprising seven affected individuals with moderate ID and short stature. ...In addition, the younger sibling had a congeni …
In 2011, KIAA1033/WASHC4 was associated with autosomal recessive intellectual disability (ARID) in a large consa …
The epilepsy phenotype of ST3GAL3-related developmental and epileptic encephalopathy.
Whitney R, Jain P, RamachandranNair R, Jones KC, Kiani H, Tarnopolsky M, Meaney B. Whitney R, et al. Epilepsia Open. 2023 Jun;8(2):623-632. doi: 10.1002/epi4.12747. Epub 2023 Apr 24. Epilepsia Open. 2023. PMID: 37067065 Free PMC article. Review.
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. ...Whole e …
OBJECTIVE: ST3GAL3-related developmental and epileptic encephalopathy (DEE-15) is an autosomal recessive condition characteriz …
Genetics of autosomal recessive non-syndromic mental retardation: recent advances.
Basel-Vanagaite L. Basel-Vanagaite L. Clin Genet. 2007 Sep;72(3):167-74. doi: 10.1111/j.1399-0004.2007.00881.x. Clin Genet. 2007. PMID: 17718851 Review.
The identification of the genes mutated in autosomal recessive non-syndromic mental retardation (ARNSMR) has been very active recently. ...
The identification of the genes mutated in autosomal recessive non-syndromic mental retardation (ARNSMR) has been very active …
[Human peroxisome-deficient disorders and pathogenic gene].
Fujiki Y. Fujiki Y. Rinsho Shinkeigaku. 1994 Dec;34(12):1219-21. Rinsho Shinkeigaku. 1994. PMID: 7539728 Review. Japanese.
Peroxisome is a model organelle to investigate the mechanism of protein translocation and organelle assembly. Human autosomal recessive peroxisomal disorders are of clinical consequence and a model system to study the biogenesis and physiological significance of per …
Peroxisome is a model organelle to investigate the mechanism of protein translocation and organelle assembly. Human autosomal rece …