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Year Number of Results
1984 1
1986 1
1987 1
1989 2
1990 3
1991 1
1992 6
1993 5
1994 1
1995 11
1996 8
1997 10
1998 16
1999 16
2000 11
2001 15
2002 22
2003 20
2004 20
2005 23
2006 25
2007 20
2008 20
2009 26
2010 18
2011 21
2012 11
2013 13
2014 11
2015 14
2016 17
2017 10
2018 15
2019 20
2020 16
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417 results
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Page 1
Autoimmune diseases and 8.1 ancestral haplotype: An update.
Gambino CM, Aiello A, Accardi G, Caruso C, Candore G. Gambino CM, et al. HLA. 2018 Sep;92(3):137-143. doi: 10.1111/tan.13305. Epub 2018 Jun 19. HLA. 2018. PMID: 29877054 Review.
The aim of the present review is to provide an update of the current research into the pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype. ...Recently, progress and advances in the field of genome-wide-association studies have revolutionized …
The aim of the present review is to provide an update of the current research into the pathogenesis of autoimmune diseases associated with 8 …
Risk factors and disease mechanisms in myositis.
Miller FW, Lamb JA, Schmidt J, Nagaraju K. Miller FW, et al. Nat Rev Rheumatol. 2018 Apr 20;14(5):255-268. doi: 10.1038/nrrheum.2018.48. Nat Rev Rheumatol. 2018. PMID: 29674613 Free PMC article. Review.
The HLA 8.1 ancestral haplotype is a key risk factor for major IIM phenotypes in some populations, and several genetic variants associated with other autoimmune diseases have been identified as IIM risk factors. ...
The HLA 8.1 ancestral haplotype is a key risk factor for major IIM phenotypes in some populations, and several genetic variant …
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ. Rafehi H, et al. Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20. Am J Hum Genet. 2019. PMID: 31230722 Free PMC article.
Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype, estimated to have arisen in Europe more than twenty-five thousand years ago. ...
Genetic analyses confirmed the pathogenic expansion in 18 of 22 CANVAS-affected families and identified a core ancestral haplotype
When type 1 diabetes meets celiac disease.
Vidan-Jeras B. Vidan-Jeras B. HLA. 2018 Dec;92 Suppl 2:64-66. doi: 10.1111/tan.13441. HLA. 2018. PMID: 30488586 Review.
Additionally, the A1-B8-DR3-DQ2-MICA*008 ancestral haplotype (8.1AH) was over-represented in Slovenian (T1D+CD) patients, where B*08 was the most significant independent risk factor. ...
Additionally, the A1-B8-DR3-DQ2-MICA*008 ancestral haplotype (8.1AH) was over-represented in Slovenian (T1D+CD) patients, wher …
Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups.
Rothwell S, Chinoy H, Lamb JA, Miller FW, Rider LG, Wedderburn LR, McHugh NJ, Mammen AL, Betteridge ZE, Tansley SL, Bowes J, Vencovský J, Deakin CT, Dankó K, Vidya L, Selva-O'Callaghan A, Pachman LM, Reed AM, Molberg Ø, Benveniste O, Mathiesen PR, Radstake TRDJ, Doria A, de Bleecker J, Lee AT, Hanna MG, Machado PM, Ollier WE, Gregersen PK, Padyukov L, O'Hanlon TP, Cooper RG, Lundberg IE; Myositis Genetics Consortium (MYOGEN). Rothwell S, et al. Ann Rheum Dis. 2019 Jul;78(7):996-1002. doi: 10.1136/annrheumdis-2019-215046. Epub 2019 May 28. Ann Rheum Dis. 2019. PMID: 31138531 Free PMC article.
Associations with the 8.1 ancestral haplotype were found with anti-Jo-1 (HLA-B*08:01, p=2.28×10(-53) and HLA-DRB1*03:01, p=3.25×10(-9)), anti-PM/Scl (HLA-DQB1*02:01, p=1.47×10(-26)) and anti-cN1A autoantibodies (HLA-DRB1*03:01, p=1.40×10(-11)). Associations independ …
Associations with the 8.1 ancestral haplotype were found with anti-Jo-1 (HLA-B*08:01, p=2.28×10(-53) and HLA-DRB1*03:01, p=3.2 …
An ancestral haplotype of the human PERIOD2 gene associates with reduced sensitivity to light-induced melatonin suppression.
Akiyama T, Katsumura T, Nakagome S, Lee SI, Joh K, Soejima H, Fujimoto K, Kimura R, Ishida H, Hanihara T, Yasukouchi A, Satta Y, Higuchi S, Oota H. Akiyama T, et al. PLoS One. 2017 Jun 26;12(6):e0178373. doi: 10.1371/journal.pone.0178373. eCollection 2017. PLoS One. 2017. PMID: 28650999 Free PMC article.
We collected physiological data from 43 subjects, including light-induced melatonin suppression, and performed haplotype analyses on the clock genes, PER2 and PER3, exhibiting geographical differentiation of allele frequencies. ...Compared with global haplotype freq …
We collected physiological data from 43 subjects, including light-induced melatonin suppression, and performed haplotype analyses on …
Identification of an ancestral haplotype in the mitochondrial phylogeny of the ovine haplogroup B.
Mereu P, Pirastru M, Barbato M, Satta V, Hadjisterkotis E, Manca L, Naitana S, Leoni GG. Mereu P, et al. PeerJ. 2019 Oct 22;7:e7895. doi: 10.7717/peerj.7895. eCollection 2019. PeerJ. 2019. PMID: 31660272 Free PMC article.
RESULTS: We identified an early split (110,000 years ago) of the Sardinian mouflon haplotype from both sheep and mainland European mouflon belonging to haplogroup B, the latter two sharing a more recent common ancestor (80,000 years ago). ...Our results suggest the Sardini …
RESULTS: We identified an early split (110,000 years ago) of the Sardinian mouflon haplotype from both sheep and mainland European mo …
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Slaugenhaupt SA, et al. Am J Hum Genet. 2001 Mar;68(3):598-605. doi: 10.1086/318810. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11179008 Free PMC article.
Previously, we had mapped the FD gene, DYS, to a 0.5-cM region on chromosome 9q31 and had shown that the ethnic bias is due to a founder effect, with >99.5% of disease alleles sharing a common ancestral haplotype. ...The mutation associated with the minor hapl
Previously, we had mapped the FD gene, DYS, to a 0.5-cM region on chromosome 9q31 and had shown that the ethnic bias is due to a founder eff …
Inheritance of the 8.1 ancestral haplotype in recurrent pregnancy loss.
Kolte AM, Nielsen HS, Steffensen R, Crespi B, Christiansen OB. Kolte AM, et al. Evol Med Public Health. 2015 Dec 16;2015(1):325-31. doi: 10.1093/emph/eov031. Print 2015. Evol Med Public Health. 2015. PMID: 26675299 Free PMC article.
BACKGROUND AND OBJECTIVES: The 8.1 ancestral haplotype (AH) (HLA-A1, C7, B8, C4AQ0, C4B1, DR3, DQ2) is a remarkably long and conserved haplotype in the human major histocompatibility complex. ...It has also been proposed that the survival of long, conserved h …
BACKGROUND AND OBJECTIVES: The 8.1 ancestral haplotype (AH) (HLA-A1, C7, B8, C4AQ0, C4B1, DR3, DQ2) is a remarkably long and c …
TRPV6 channels.
Fecher-Trost C, Weissgerber P, Wissenbach U. Fecher-Trost C, et al. Handb Exp Pharmacol. 2014;222:359-84. doi: 10.1007/978-3-642-54215-2_14. Handb Exp Pharmacol. 2014. PMID: 24756713 Review.
(In the following numbering occurs according to this full-length protein, with the numbers of the so far annotated truncated protein in brackets). (3) Only in humans a coupled polymorphism of Trpv6 exists causing three amino acid exchanges and resulting in an ancestral Trp …
(In the following numbering occurs according to this full-length protein, with the numbers of the so far annotated truncated protein in brac …
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