Results 61 to 70 of about 135,110 (255)

Adaptive Responses of Tropical Crops: A Multi‐Scale Omics Integrated Perspective

open access: yesAdvanced Science, EarlyView.
Tropical crops integrate genomic, morphological, physiological, and ecological adaptations to thrive under extreme and variable environments. This review highlights how natural selection, domestication, and breeding shape stress resilience, resource‐use strategies, and productivity in sugarcane, banana, cassava, rubber and oil palm, offering new routes
Peilin Wang   +11 more
wiley   +1 more source

A Personalized Haplotype‐Resolved Near‐Gapless Genome Framework for Somatic Variant Discovery in Hepatocellular Carcinoma

open access: yesAdvanced Science, EarlyView.
A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin   +17 more
wiley   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Strategies for inducing diabetes in laboratory animals: Advances from chemical, surgical, immunologic, dietary, and genetic approaches

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review summarizes the principal experimental approaches used to induce diabetes in animal models. Strategies include chemical agents (streptozotocin, alloxan, dithizone, gold thioglucose), dietary interventions (high‐fat and high‐sugar diets), surgical methods (total or partial pancreatectomy), genetic models (db/db, ob/ob, Goto‐Kakizaki [GK ...
Milad Faraji   +2 more
wiley   +1 more source

Discovery of Single Nucleotide Polymorphisms in Complex Genomes Using SGSautoSNP

open access: yesBiology, 2012
Single nucleotide polymorphisms (SNPs) are becoming the dominant form of molecular marker for genetic and genomic analysis. The advances in second generation DNA sequencing provide opportunities to identify very large numbers of SNPs in a range of ...
Jacqueline Batley   +10 more
doaj   +1 more source

Two Years of Ocrelizumab Treatment in Black and Hispanic People with Multiple Sclerosis in CHIMES: A Single‐Arm Clinical Trial

open access: yesAnnals of Neurology, EarlyView.
Objective To evaluate the effectiveness and safety of ocrelizumab in self‐identified black and Hispanic people with relapsing multiple sclerosis. Methods The Characterization of Ocrelizumab in Minorities with Multiple Sclerosis (CHIMES) trial, a prospective, open‐label, single‐arm, phase 4 study, intentionally recruited underrepresented populations in ...
Lilyana Amezcua   +16 more
wiley   +1 more source

Modeling Haplotype-Haplotype Interactions in Case-Control Genetic Association Studies

open access: yesFrontiers in Genetics, 2012
Haplotype analysis has been increasingly used to study the genetic basis of human diseases, but models for characterizing genetic interactions between haplotypes from different chromosomal regions have not been well developed in the current literature ...
Li eZhang   +4 more
doaj   +1 more source

Diploid Alignments and Haplotyping [PDF]

open access: yes, 2015
Sequence alignments have been studied for decades under the simplified model of a consensus sequence representing a chromosome. A natural question is if there is some more accurate notion of alignment for diploid (and in general, polyploid) organisms.
Veli Mäkinen, Daniel Valenzuela 0001
openaire   +2 more sources

Home - About - Disclaimer - Privacy