Výsledky vyhledávání - "Human inherited disease"

Akademický článek

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Autor: Hamby Stephen E, Thomas Nick ST, Cooper David N, Chuzhanova Nadia

Publikováno v: Human Genomics, Vol 5, Iss 4, Pp 241-264 (2011)

Abstract 'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performed

Externí odkaz: https://doaj.org/article/a1456fb17bcc43f19c08709acd1459d3

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Akademický článek

Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

Autor: Cooper David N, Mort Matthew, Stenson Peter D, Ball Edward V, Chuzhanova Nadia A

Publikováno v: Human Genomics, Vol 4, Iss 6, Pp 406-410 (2010)

Abstract The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spont

Externí odkaz: https://doaj.org/article/539a2c7f315743bda3956f7c2fc07a93

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First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts

Publikováno v: Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩

International audience; It has long been known that canonical 5' splice site (5'SS) GT>GC variants may be compatible with normal splicing. However, to date, the actual scale of canonical 5'SSs capable of generating wild-type transcripts in the case o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fc6fdcd950314e38c8b1e213f1124
https://hal.inrae.fr/hal-02947010

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Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Autor: Jorge Frank, Maaike Vreeburg, Ruud G. L. Nellen, Maurice A.M. van Steensel, Michel van Geel, P.M. Steijlen

Publikováno v: Human Mutation, 38(4), 343-356. Wiley

The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ba30977cc3543d31d529ab32970b1cc
https://cris.maastrichtuniversity.nl/en/publications/9cd50d6c-907f-4c50-9bce-043c13e5b05c

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Akademický článek

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Gene conversion in human genetic disease

Autor: David Neil Cooper, Jian-Min Chen, Claude Férec

Publikováno v: Genes
Genes, Vol 1, Iss 3, Pp 550-563 (2010)

Gene conversion is a specific type of homologous recombination that involves the unidirectional transfer of genetic material from a ‘donor’ sequence to a highly homologous ‘acceptor’. We have recently reviewed the molecular mechanisms underly

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Akademický článek

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A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Autor: David Neil Cooper, Nicholas Stuart Tudor Thomas, Nadia Chuzhanova, Stephen E. Hamby

Publikováno v: Human Genomics, Vol 5, Iss 4, Pp 241-264 (2011)
ResearcherID
Human Genomics

'Nonstop' mutations are single base-pair substitutions that occur within translational termination (stop) codons and which can lead to the continued and inappropriate translation of the mRNA into the 3'-untranslated region. We have performed a meta-a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81131aadb15a1ad5c1322454aa3c7cec
https://doi.org/10.1186/1479-7364-5-4-241

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Structure, substrate recognition and reactivity of Leishmania major mevalonate kinase

Autor: Terry K. Smith, William N. Hunter, Tanja Sgraja

Publikováno v: BMC Structural Biology
BMC Structural Biology, Vol 7, Iss 1, p 20 (2007)

Background Isoprenoid precursor synthesis via the mevalonate route in humans and pathogenic trypanosomatids is an important metabolic pathway. There is however, only limited information available on the structure and reactivity of the component enzym

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32cced6335fe78101fea265bfa5c8e2
http://europepmc.org/articles/PMC1851959

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