The JAK2 46/1 (GGCC) MPN‐predisposing haplotype: A risky haplotype, after all
Sign Up to like & getrecommendations! Published in 2019 at "American Journal of Hematology"
DOI: 10.1002/ajh.25367
Abstract: CRIMM, Centro di Ricerca e Innovazione per le Malattie Mieloproliferative, Azienda Ospedaliera Universitaria Careggi, Dipartimento di Medicina Sperimentale e Clinica, Università degli Studi Firenze, and DENOTHE Excellence Center, Firenze, Italy Correspondence Alessandro M. Vannucchi, Centro… read more here.
Keywords: mpn predisposing; ggcc mpn; haplotype; predisposing haplotype ... See more keywords
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) CFTR allele using haplotype-resolved long-read next generation sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Human mutation"
DOI: 10.1002/humu.24352
Abstract: Current approaches to characterize the mutational profile of the cystic fibrosis transmembrane conductance regulator (CFTR) gene are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However,… read more here.
Keywords: cftr; haplotype resolved; f508del; mutation ... See more keywords
cfDNA screening and diagnosis of monogenic disorders – where are we heading?
Sign Up to like & getrecommendations! Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5207
Abstract: Cell‐free fetal DNA analysis for non‐invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non‐invasive detection by maternal plasma… read more here.
Keywords: monogenic; maternal plasma; dna; diagnosis ... See more keywords
Haplotype analysis on relationship of ERCC2 and ERCC3 gene polymorphisms with osteosarcoma risk in Chinese young population
Sign Up to like & getrecommendations! Published in 2017 at "Mammalian Genome"
DOI: 10.1007/s00335-017-9693-8
Abstract: The purpose of the study was to investigate the association of single-nucleotide polymorphisms (SNPs) within excision repair cross-complementation (ERCC) gene polymorphisms, additional gene–gene interaction, and haplotype combination with osteosarcoma risk. Generalized multifactor dimensionality reduction (GMDR)… read more here.
Keywords: haplotype; gene; osteosarcoma risk; rs1799793 ... See more keywords
Assessment of M2/ANXA5 haplotype as a risk factor in couples with placenta-mediated pregnancy complications
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-017-1041-0
Abstract: PurposeThe aim of this study was to confirm the associated M2/ANXA5 carrier risk in women with placenta-mediated pregnancy complications (PMPC) and to test their male partners for such association. Further analysis evaluated the influence of… read more here.
Keywords: mediated pregnancy; pregnancy; pregnancy complications; haplotype ... See more keywords
Population genetic structure and maternal lineage of South African crossbred Nguni cattle using the cytochrome b gene in mtDNA
Sign Up to like & getrecommendations! Published in 2020 at "Tropical Animal Health and Production"
DOI: 10.1007/s11250-020-02231-8
Abstract: The Nguni cattle breed predominates South Africa and is endowed with traits favourable against environmental stressors such as heat stress and resistance to diseases. Interventions to improve production have led to the erosion of the… read more here.
Keywords: lineage; cytochrome gene; haplotype; nguni cattle ... See more keywords
Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2020.02.002
Abstract: The population of the United States is shaped by centuries of migration, isolation, growth, and admixture between ancestors of global origins. Here, we assemble a comprehensive view of recent population history by studying the ancestry… read more here.
Keywords: fine scale; analysis; haplotype; migration ... See more keywords
Promoter polymorphisms in IL-6 gene influence pro-inflammatory cytokines for the risk of osteoarthritis.
Sign Up to like & getrecommendations! Published in 2020 at "Cytokine"
DOI: 10.1016/j.cyto.2020.154985
Abstract: BACKGROUND Interleukin-6 (IL-6) gene regulates IL-6 levels, interplay of which has been found to influence pathophysiology of osteoarthritis (OA). Polymorphism within promoter region of IL-6 gene and its association with plasma levels of pro-inflammatory cytokines;… read more here.
Keywords: risk; haplotype; inflammatory cytokines; promoter ... See more keywords
Interleukin-8 genetic diversity, haplotype structure and production differ in two ethnically distinct South African populations.
Sign Up to like & getrecommendations! Published in 2021 at "Cytokine"
DOI: 10.1016/j.cyto.2021.155489
Abstract: A single nucleotide polymorphism (SNP), 251 bases upstream from the IL-8 transcription start (-251A>T, rs4073), has been extensively investigated in cancers and inflammatory and infectious diseases in predominantly European and Asian populations. We sequenced the… read more here.
Keywords: production; black population; hap; haplotype ... See more keywords
Taqman Assay for Genotyping CKD-Associated APOL1 SNP rs60910145: A Cautionary Note
Sign Up to like & getrecommendations! Published in 2019 at "Kidney International Reports"
DOI: 10.1016/j.ekir.2018.09.018
Abstract: When combined with results from the rs73885319 and rs71785313 SNP assays, will result in an inferred haplotype not observed on African chromosomes. To the Editor: There are 2 APOL1 variant haplotypes, G1 and G2, that… read more here.
Keywords: taqman; base pair; haplotype; snp ... See more keywords
Detection Of Risk Genes For Psychosis In A Family With 22Q11.2ds - Preliminary Findings
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DOI: 10.1016/j.euroneuro.2016.09.569
Abstract: Abstract The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. It is a multisystem congenital anomaly disorder characterized by variable manifestations including high rates of neuropsychiatric disorders. A unique 22q11.2DS multigeneration… read more here.
Keywords: 22q11 2ds; detection risk; family; haplotype ... See more keywords