Results 141 to 150 of about 542,507 (360)

A Scalable Framework for Comprehensive Typing of Polymorphic Immune Genes from Long‐Read Data

open access: yesAdvanced Science, EarlyView.
SpecImmune introduces a unified computational framework optimized for long‐read sequencing to resolve over 400 highly polymorphic immune genes. This scalable approach achieves high‐resolution typing, enabling the discovery of cross‐family co‐evolutionary networks and population‐specific diversity.
Shuai Wang   +5 more
wiley   +1 more source

Polymorphism of the DNA repair genes RAD51 and XRCC2 in smoking- and drinking-related laryngeal cancer in a Polish population [PDF]

open access: gold, 2012
Hanna Romanowicz‐Makowska   +9 more
openalex   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

open access: yesAdvanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling   +17 more
wiley   +1 more source

Systematic Engineering of Proteases in Saccharopolyspora Spinosa Reveals Synergistic Enhancement of Spinosad Biosynthesis via Substrate Flux Optimization

open access: yesAdvanced Science, EarlyView.
ARTP mutagenesis yielded Saccharopolyspora spinosa mutant D184 with improved extracellular nitrogen utilization. An integrated workflow of protease genetic manipulation, multi‐omics, and rational synergy design pinpointed a pepP‐clpP‐htpX synergistic triangular combination.
Duo Jin   +9 more
wiley   +1 more source

Gene polymorphisms in primary biliary cirrhosis: association with the disease and hepatic osteopathy [PDF]

open access: yes, 2007
Genetic factors have been implicated in the pathogenesis of osteoporosis, a common disorder in primary biliary cirrhosis (PBC). Estrogen receptor-alpha gene (ER- ), vitamin-D-receptor gene (VDR) and IL-1-receptor-antagonist gene (IL-1RN) are all ...
Bajnok, Éva   +6 more
core  

Deciphering the Evolution Pattern of Structural Variations Overlapped With Repetitive Sequence During Cattle Evolution

open access: yesAdvanced Science, EarlyView.
The authors complement bovine pan‐SV with massive novel structural variations (SVs) identified through long‐read sequencing of 83 globally distributed cattle breeds. Repetitive sequence‐mediated SVs (rep‐SV) exhibit distinct dynamic patterns throughout cattle sub‐speciation and/or domestication processes, including uneven distribution between chr‐X and
Zhifan Guo   +16 more
wiley   +1 more source

Additive and Partially Dominant Effects from Genomic Variation Contribute to Rice Heterosis

open access: yesAdvanced Science, EarlyView.
Additive and partially dominant effects, namely at mid‐parent levels or values between mid‐parent and parental levels, respectively, are the predominant inheritance patterns of heterosis‐associated molecules. These two genetic effects contribute to heterosis of agronomic traits in both rice and maize, as well as biomass heterosis in Arabidopsis ...
Zhiwu Dan   +8 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

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