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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1986 1
1990 4
1992 4
1993 3
1994 2
1995 2
1996 8
1997 7
1998 8
1999 10
2000 12
2001 20
2002 19
2003 18
2004 23
2005 29
2006 39
2007 23
2008 36
2009 40
2010 52
2011 51
2012 56
2013 51
2014 47
2015 49
2016 35
2017 34
2018 25
2019 32
2020 40
2021 43
2022 31
2023 38
2024 12

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798 results

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Page 1
Population dynamics of potentially harmful haplotypes: a pedigree analysis.
Arias KD, Fernández I, Gutiérrez JP, Álvarez I, Goyache F. Arias KD, et al. BMC Genomics. 2024 May 16;25(1):487. doi: 10.1186/s12864-024-10407-x. BMC Genomics. 2024. PMID: 38755557
The number of alleles and candidate alleles varied across cohorts according to sample size. ...Minimum Allele Frequency thresholds may remove informative alleles. Only fully segregant candidate alleles should be considered potentially harmful …
The number of alleles and candidate alleles varied across cohorts according to sample size. ...Minimum Allele Frequency …
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M. Baena N, et al. Clin Epigenetics. 2024 May 7;16(1):62. doi: 10.1186/s13148-024-01652-8. Clin Epigenetics. 2024. PMID: 38715103 Free PMC article.
RESULTS: The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. Relative hypermethylation of the two maternally methylated intervals, DLK1 and MEG8 DMRs, was observed along with normal methylation level at IG-DMR and MEG3 DMR …
RESULTS: The patient had inherited a 69 Kb deletion, encompassing the entire DLK1 gene, on the paternal allele. Relative hypermethyla …
APOE ɛ4 exacerbates age-dependent deficits in cortical microstructure.
Mak E, Dounavi ME, Operto G, Ziukelis ET, Jones PS, Low A, Swann P, Newton C, Muniz Terrera G, Malhotra P, Koychev I, Falcon C, Mackay C, Lawlor B, Naci L, Wells K, Ritchie C, Ritchie K, Su L, Gispert JD, O'Brien JT; PREVENT-Dementia and ALFA studies. Mak E, et al. Brain Commun. 2024 Feb 21;6(1):fcad351. doi: 10.1093/braincomms/fcad351. eCollection 2024. Brain Commun. 2024. PMID: 38384997 Free PMC article.
The apolipoprotein E e4 allele is the primary genetic risk factor for the sporadic type of Alzheimer's disease. ...
The apolipoprotein E e4 allele is the primary genetic risk factor for the sporadic type of Alzheimer's disease. ...
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Forghani I, Lang SH, Rodier MJ, Bivona SA; Undiagnosed Diseases Network; Morales AA, Zuchner S, Bademci G, Tekin M. Forghani I, et al. Am J Med Genet A. 2024 Jun;194(6):e63556. doi: 10.1002/ajmg.a.63556. Epub 2024 Feb 13. Am J Med Genet A. 2024. PMID: 38348595
Furthermore, nonsense-mediated decay was demonstrated for the mutant allele as the principal mechanism for decreased levels of EFEMP1 mRNA. ...
Furthermore, nonsense-mediated decay was demonstrated for the mutant allele as the principal mechanism for decreased levels of EFEMP1 …
KPC-2 allelic variants in Klebsiella pneumoniae isolates resistant to ceftazidime-avibactam from Argentina: bla(KPC-80), bla(KPC-81), bla(KPC-96) and bla(KPC-97).
Sanz MB, Pasteran F, de Mendieta JM, Brunetti F, Albornoz E, Rapoport M, Lucero C, Errecalde L, Nuñez MR, Monge R, Pennini M, Power P, Corso A, Gomez SA. Sanz MB, et al. Microbiol Spectr. 2024 Mar 5;12(3):e0411123. doi: 10.1128/spectrum.04111-23. Epub 2024 Feb 6. Microbiol Spectr. 2024. PMID: 38319084 Free PMC article.
In this study, we characterized four clinical CZA-resistant Klebsiella pneumoniae isolates obtained between July 2019 and December 2020. These isolates expressed novel allelic variants of bla(KPC-2) resulting from changes in hotspots of the mature protein, particularly in …
In this study, we characterized four clinical CZA-resistant Klebsiella pneumoniae isolates obtained between July 2019 and December 2020. The …
Uncovering the genetic architecture and evolutionary roots of androgenetic alopecia in African men.
Janivara R, Hazra U, Pfennig A, Harlemon M, Kim MS, Eaaswarkhanth M, Chen WC, Ogunbiyi A, Kachambwa P, Petersen LN, Jalloh M, Mensah JE, Adjei AA, Adusei B, Joffe M, Gueye SM, Aisuodionoe-Shadrach OI, Fernandez PW, Rohan TE, Andrews C, Rebbeck TR, Adebiyi AO, Agalliu I, Lachance J. Janivara R, et al. bioRxiv [Preprint]. 2024 Jan 15:2024.01.12.575396. doi: 10.1101/2024.01.12.575396. bioRxiv. 2024. PMID: 38293167 Free PMC article. Preprint.
Finally, we examined the evolutionary causes of continental differences in genetic architecture. Although Neanderthal alleles have previously been associated with skin and hair phenotypes, we did not find evidence that European-ascertained baldness hits were enriched for s …
Finally, we examined the evolutionary causes of continental differences in genetic architecture. Although Neanderthal alleles have pr …
Conditional deletion of Ccl2 in smooth muscle cells does not reduce early atherosclerosis in mice.
Gunnersen S, Shim JT, Liu F, Tietge UJF, Sørensen CB, Bentzon JF. Gunnersen S, et al. Atheroscler Plus. 2023 Dec 20;55:12-20. doi: 10.1016/j.athplu.2023.12.004. eCollection 2024 Mar. Atheroscler Plus. 2023. PMID: 38234375 Free PMC article.
METHODS: SMC-restricted Cre recombinase was activated at 6 weeks of age in mice with homozygous floxed or wildtype Ccl2 alleles. Separate experiments in mice lacking the Cre recombinase transgene were conducted to control for genetic background effects. ...Importantly, cha …
METHODS: SMC-restricted Cre recombinase was activated at 6 weeks of age in mice with homozygous floxed or wildtype Ccl2 alleles. Sepa …
Assessment of Novel Proteins Triggering Celiac Disease via Docking-Based Approach.
Atanasova M, Dimitrov I, Fernandez A, Moreno J, Koning F, Doytchinova I. Atanasova M, et al. Molecules. 2023 Dec 26;29(1):138. doi: 10.3390/molecules29010138. Molecules. 2023. PMID: 38202724 Free PMC article.
In celiac disease, HLA-DQ2.5 and HLA-DQ8.1 bind gluten peptides on APCs, some recognized by CD4+ T cells, prompting inflammation and tissue damage. While extensively studied experimentally, these alleles lack comprehensive in silico analysis. To explore peptide-HLA prefere …
In celiac disease, HLA-DQ2.5 and HLA-DQ8.1 bind gluten peptides on APCs, some recognized by CD4+ T cells, prompting inflammation and tissue …
Matrix Gla protein polymorphism rs1800802 is associated with atheroma plaque progression and with cardiovascular events in a chronic kidney disease cohort.
Cambray S, Bermúdez-López M, Garcia-Carrasco A, Valdivielso JM; NEFRONA investigators. Cambray S, et al. Clin Kidney J. 2023 Oct 10;17(1):sfad257. doi: 10.1093/ckj/sfad257. eCollection 2024 Jan. Clin Kidney J. 2023. PMID: 38186884 Free PMC article.
No association of the rs4236 or the rs1800801 SNPs was detected with any of the outcomes. However, patients homozygotes for the minor allele of the rs1800802 SNP showed higher adjusted risk for plaque progression [odds ratio 2.3 (95% confidence interval 1.06-4.9)] and high …
No association of the rs4236 or the rs1800801 SNPs was detected with any of the outcomes. However, patients homozygotes for the minor all …
Genetic characterization of domestic pigs in the core zone of swine production of Argentina.
Figueroa CE, Mac Allister ME, Acosta DB, Fernández GP, Merino ML. Figueroa CE, et al. Trop Anim Health Prod. 2023 Dec 18;56(1):20. doi: 10.1007/s11250-023-03852-5. Trop Anim Health Prod. 2023. PMID: 38110670
The genotyping of the ryr1 marker revealed the presence of the deleterious t allele in all analyzed strata. However, the RN-allele of the PRKAG3 gene was detected only in the two lower strata. ...Additionally, the results present, for the first time, the frequency o …
The genotyping of the ryr1 marker revealed the presence of the deleterious t allele in all analyzed strata. However, the RN-allele …
798 results