Results 81 to 90 of about 91,099 (345)

The Diverse Neuromuscular Spectrum of VPS13A Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective VPS13A disease (chorea‐acanthocytosis) is a rare neurodegenerative disorder caused by biallelic variants in VPS13A, typically presenting with hyperkinetic movement disorders, while neuromuscular signs are often mild. The aim of the project was to investigate the frequency and severity of neuromuscular impairment in VPS13A disease ...
Anne Buchberger   +16 more
wiley   +1 more source

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco   +18 more
wiley   +1 more source

Loss of heterozygosity in acute leukemia: evidence of frequent submicroscopic deletions

open access: yesHaematologica, 2007
Although chromosomal abnormalities are detected by conventional cytogenetic analysis (CCA) in 40–60% of patients with acute myeloid leukemia (AML), cryptic chromosomal deletions may only be detected by molecular analysis. To determine their frequency, we
Cecilia Agueli   +9 more
doaj   +1 more source

Stress Alters Rates and Types of Loss of Heterozygosity in Candida albicans

open access: yesmBio, 2011
Genetic diversity is often generated during adaptation to stress, and in eukaryotes some of this diversity is thought to arise via recombination and reassortment of alleles during meiosis.
A. Forche   +7 more
semanticscholar   +1 more source

A Microfluidic Multiplex Sorter for Strain Development

open access: yesAdvanced Materials Technologies, Volume 10, Issue 6, March 18, 2025.
A new multiplex method for high‐throughput screening of yeast strains based on glucoamylase production is presented. Droplets containing single mutant yeast cells are incubated for enzyme production. A sorting platform divides mutants by their high‐ and mid‐activity levels.
Chiara Leal‐Alves   +6 more
wiley   +1 more source

Epigenetic loss of heterozygosity of Apc and an inflammation-associated mutational signature detected in Lrig1 +/− -driven murine colonic adenomas

open access: yesBMC Cancer, 2020
Background The loss of a single copy of adenomatous polyposis coli (Apc) in leucine-rich repeats and immunoglobulin-like domains 1 (Lrig1)-expressing colonic progenitor cells induces rapid growth of adenomas in mice with high penetrance and multiplicity.
Jessica L. Preston, Nicholas Stiffler
doaj   +1 more source

Glucose Deprivation‐Induced Disulfidptosis via the SLC7A11‐INF2 Axis: Pan‐Cancer Prognostic Exploration and Therapeutic Validation

open access: yesAdvanced Science, EarlyView.
Glucose deprivation or GLUT1 inhibition induces disulfidptosis in SLC7A11high ovarian cancer cells by promoting cystine accumulation, NADPH/ATP depletion, and F‐actin disulfide formation. SLC7A11 interacts with INF2 to further increase H₂O₂ levels and impair mitochondrial fission, suppressing cell migration. Targeting the SLC7A11–INF2 axis represents a
Zhenyu Song   +9 more
wiley   +1 more source

LRRC8A Regulates Outer Hair Cell Volume and Electromotility and is Required for Hearing

open access: yesAdvanced Science, EarlyView.
This study identifies LRRC8A‐dependent volume‐regulated anion channels (VRACs) as essential for cochlear outer hair cells' electromotility and auditory signal amplification. LRRC8A deficiency disrupts cell volume control, impairs auditory sensitivity, and causes deafness, while targeted LRRC8A re‐expression restores auditory function.
Shengnan Wang   +15 more
wiley   +1 more source

An Allele of Glutamate Formiminotransferase Triggers 5‐Methyl‐Tetrahydrofolate‐to‐MeFox Conversion and Facilitates Folate Biofortification in Maize

open access: yesAdvanced Science, EarlyView.
This work demonstrates the distinct roles of the glutamate formiminotransferase (GFT) enzyme in plants. The GFT triggers the conversion of 5‐methyl‐tetrahydrofolate to MeFox in plants, a process distinct from its role as a formiminotransferase in mammals.
Tong Lian   +15 more
wiley   +1 more source

Notch1 loss of heterozygosity causes vascular tumors and lethal hemorrhage in mice.

open access: yesJournal of Clinical Investigation, 2011
The role of the Notch signaling pathway in tumor development is complex, with Notch1 functioning either as an oncogene or as a tumor suppressor in a context-dependent manner.
Zhenyi Liu   +7 more
semanticscholar   +1 more source

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