Results 151 to 160 of about 210,847 (212)

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

Chromosome organization by a conserved condensin-ParB system in the actinobacterium Corynebacterium glutamicum. [PDF]

open access: yesNat Commun, 2020
Böhm K   +6 more
europepmc   +1 more source

SDF‐1 Attenuates Oocyte Quality Decline During Reproductive Aging Through Autophagy‐Enhanced Stress Granule Scavenging

open access: yesAdvanced Science, EarlyView.
SDF‐1 levels decline significantly with maternal aging. Exogenous supplementation restores meiotic spindle morphology, chromosomal alignment, and mitochondrial function while reducing oxidative stress in aged oocytes. Mechanistically, SDF‐1 enhances autophagic activity to clear accumulated stress granules, thereby rescuing fertilization competence and ...
Rui Long   +12 more
wiley   +1 more source

Mitotic chromosome organization: General rules meet species-specific variability. [PDF]

open access: yesComput Struct Biotechnol J, 2020
Beseda T   +5 more
europepmc   +1 more source

Multidisciplinary Treatment for Esophagogastric Junction Cancer From a Dutch Perspective

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
ABSTRACT Esophagogastric junction (EGJ) cancer is an increasing health burden worldwide. Over the past decade, significant advancements in centralization, multimodal treatment strategies, as well as the widespread adoption of minimally invasive surgical techniques, have led to marked improvements in perioperative outcomes and overall survival of EGJ ...
Hidde C. G. Overtoom   +1 more
wiley   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

P158: Generating advancements in longitudinal analysis in X&Y chromosome variations: Initial data from the multicenter GALAXY Clinical Data Registry and biorepository*

open access: yesGenetics in Medicine Open
Susan Howell   +7 more
doaj   +1 more source

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