Results 41 to 50 of about 133,224 (273)
Haplotype inference for present–absent genotype data using previously identified haplotypes and haplotype patterns [PDF]
Bioinformatics, 2007 AbstractMotivation: Killer immunoglobulin-like receptor (KIR) genes vary considerably in their presence or absence on a specific regional haplotype. Because presence or absence of these genes is largely detected using locus-specific genotyping technology, the distinction between homozygosity and hemizygosity is often ambiguous.
Richard A. Kaslow +3 more
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Advanced Science, EarlyView.This study investigates bidirectional introgression between Chinese and European pig populations, revealing 3558 introgressed genomic segments and 30 structural variations. Analysis of the BMP2 region suggests its role in body size enhancement. By integrating ancient and modern genomes, the study highlights the impact of introgression on genetic ...
Yibin Qiu +19 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 In this report, we described two cases of NEDDFL caused by novel variants (NM_004459.6: c.1133G>A, c.5941delC) in BPTF gene. Both children had short stature and responded to recombinant human growth hormone treatment ‐ the first report of this therapy in NEDDFL patients.
Wenyong Wu, Ruimin Chen
wiley +1 more source
Order of precedence and age of Y-DNA haplotypes [PDF]
Journal of Computational Biology. November 2012, 19(11): 1243-1250, 2011 A simple method, inspired by procedures used in physics of nuclear multifragmentation, allows to establish order of precedence and age of pairs of haplotypes separated by one mutation. For both haplotypes of the pair, searches for existing haplotypes, differing by increasing number of mutations, are carried out using a database. The resulting ratios of
arxiv
S haplotype collection in Brassicaceae crops-an updated list of S haplotypes.
Breeding science, 2023 Self-incompatibility is the system that inhibits pollen germination and pollen tube growth by self-pollen. This trait is important for the breeding of Brassica and Raphanus species. In these species, self-incompatibility is governed by the S locus, which contains three linked genes (a set called the S haplotype), i.e., S-locus receptor kinase, S-locus ...
Yamamoto, Masaya +5 more
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High-throughput haplotype determination over long distances by haplotype fusion PCR and ligation haplotyping [PDF]
Nature Protocols, 2009 When combined with haplotype fusion PCR (HF-PCR), ligation haplotyping is a robust, high-throughput method for empirical determination of haplotypes, which can be applied to assaying both sequence and structural variation over long distances. Unlike alternative approaches to haplotype determination, such as allele-specific PCR and long PCR, HF-PCR and ...
Daniel J. Turner, Matthew E. Hurles
openaire +3 more sources
Designed Biomaterial‐Enhanced Cell Transplantation for Neural Tissue Engineering
Aggregate, EarlyView.Biomaterials offer a promising solution for cell transplantation in the central nervous system by creating a protective environment that enhances cell survival, integration, and functional recovery in preclinical models of neurological disorders. ABSTRACT Cell transplantation therapy in the central nervous system is hindered by limited survival and ...
Yun Tang +3 more
wiley +1 more source
Are β3‐adrenoceptor gene polymorphisms relevant for urology?
Neurourology and Urodynamics, Volume 42, Issue 1, Page 33-39, January 2023., 2023 Abstract Aims β3‐adrenoceptors (ARs) are an important drug target for the treatment of overactive bladder syndrome (OAB) and are under investigation for other indications. The human β3‐AR gene is polymorphic; an exchange of amino acid tryptophan (Trp) for arginine (Arg) in position 64 of the receptor protein is the most frequent and best‐studied ...
Martin C. Michel
wiley +1 more source
Haplotype-aware graph indexes [PDF]
arXiv, 2018 The variation graph toolkit (VG) represents genetic variation as a graph. Each path in the graph is a potential haplotype, though most paths are unlikely recombinations of true haplotypes. We augment the VG model with haplotype information to identify which paths are more likely to be correct.
arxiv
Topics of Interest in Women With Myeloproliferative Neoplasms
American Journal of Hematology, EarlyView.Women with MPN: life‐cycle phases, specific risks, and influencing factors. ABSTRACT Overview Sex and gender have emerged as central modifiers of disease biology, phenotype, and clinical outcomes in myeloproliferative neoplasms (MPNs). This review will uniquely highlight issues affecting women with MPN and articulate their relevant determinants ...
Natasha Szuber +2 more
wiley +1 more source