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Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.
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In: Orphanet journal of rare diseases, vol 17, iss 1 (2022)
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The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
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In: Diagnostics; Volume 12; Issue 5; Pages: 1127 (2022)
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Heritable changeability: Epimutation and the legacy of negative definition in epigenetic concepts
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In: ISSN: 0039-3681 ; Studies in History and Philosophy of Science Part A ; https://hal.archives-ouvertes.fr/hal-03464083 ; Studies in History and Philosophy of Science Part A, Elsevier, 2021, 86, pp.35 - 46. ⟨10.1016/j.shpsa.2020.12.006⟩ (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology ...
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The strength of morphophonological schemas: Consonant mutations in Polish
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In: Glossa: a journal of general linguistics; Vol 6, No 1 (2021); 25 ; 2397-1835 (2021)
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Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics
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In: Membranes ; Volume 11 ; Issue 9 (2021)
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Contemporary ghosts, moult of the novel ; Fantasmas contemporáneos, muda de la novela ; Fantômes contemporains, mue du roman
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In: Scientific Journal on Cultural Hybridizations and Migrants’ Identities; Núm. 2: ; 81-102 ; Revista científica sobre hibridaciones culturales e identidades migrantes; Núm. 2: ; Revue scientifique sur les hybridations culturelles et les identités migrantes; Núm. 2: ; 2660-6259 (2021)
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Geolinguistic variation of Hebridean Gaelic: the role of nominal morphology
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Category-specific effects in Welsh mutation
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In: Glossa: a journal of general linguistics; Vol 5, No 1 (2020); 1 ; 2397-1835 (2020)
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Phonological contrast and phonetic variation : the case of velars in Iwaidja
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The inconspicuous substratum : Indigenous Australian languages and the phonetics of stop contrasts in English on Croker Island
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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
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In: ISSN: 0301-4851 ; EISSN: 1573-4978 ; Molecular Biology Reports ; https://hal-riip.archives-ouvertes.fr/pasteur-03565723 ; Molecular Biology Reports, Springer Verlag, 2019, 46 (4), pp.4185 - 4193. ⟨10.1007/s11033-019-04869-6⟩ (2019)
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.
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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
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The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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The Historical Origin of Consonant Mutation in the Atlantic Languages
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In: Merrill, John Thomas Mayfield. (2018). The Historical Origin of Consonant Mutation in the Atlantic Languages. UC Berkeley: Linguistics. Retrieved from: http://www.escholarship.org/uc/item/1qn4m0bh (2018)
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| 17 |
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
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In: International Journal of Molecular Sciences ; Volume 19 ; Issue 9 (2018)
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
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Ansar, M.; Riazuddin, S.; Sarwar, M.T.; Makrythanasis, P.; Paracha, S.A.; Iqbal, Z.; Khan, J.; Assir, M.Z.; Hussain, M.; Razzaq, A.; Polla, D.L.; Taj, A.S.; Holmgren, A.; Batool, N.; Misceo, D.; Iwaszkiewicz, J.; de Brouwer, APM; Guipponi, M.; Hanquinet, S.; Zoete, V.; Santoni, F.A.; Frengen, E.; Ahmed, J.; van Bokhoven, H.; Antonarakis, S.E.
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In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
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Abstract:
To elucidate the novel molecular cause in two unrelated consanguineous families with autosomal recessive intellectual disability. A combination of homozygosity mapping and exome sequencing was used to locate the plausible genetic defect in family F162, while only exome sequencing was followed in the family PKMR65. The protein 3D structure was visualized with the University of California-San Francisco Chimera software. All five patients from both families presented with severe intellectual disability, aggressive behavior, and speech and motor delay. Four of the five patients had microcephaly. We identified homozygous missense variants in LINGO1, p.(Arg290His) in family F162 and p.(Tyr288Cys) in family PKMR65. Both variants were predicted to be pathogenic, and segregated with the phenotype in the respective families. Molecular modeling of LINGO1 suggests that both variants interfere with the glycosylation of the protein. LINGO1 is a transmembrane receptor, predominantly found in the central nervous system. Published loss-of-function studies in mouse and zebrafish have established a crucial role of LINGO1 in normal neuronal development and central nervous system myelination by negatively regulating oligodendrocyte differentiation and neuronal survival. Taken together, our results indicate that biallelic LINGO1 missense variants cause autosomal recessive intellectual disability in humans.
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Keyword:
Alleles; Chromosome Mapping/methods; Family; Female; Gene Frequency/genetics; Genotype; Homozygote; Humans; Intellectual Disability/genetics; Language Development Disorders/genetics; Male; Membrane Proteins/genetics; Membrane Proteins/physiology; Microcephaly/genetics; Missense/genetics; Motor Activity/genetics; Mutation; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/physiology; Pakistan; Pedigree; Phenotype; Protein; Sequence Analysis; Whole Exome Sequencing
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URL: https://doi.org/10.1038/gim.2017.113
https://serval.unil.ch/notice/serval:BIB_D7BE05010980
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