Results 211 to 220 of about 15,343 (276)

Genome-Wide Runs of Homozygosity Reveal Inbreeding Levels and Trait-Associated Candidate Genes in Diverse Sheep Breeds. [PDF]

Genes (Basel)
Ma R, Liu J, Ma X, Yang J.
europepmc   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Efficacy of a K+ Channel Agonist, XEN1101, For Preserving Contractility in Mouse Models of Hypokalemic Periodic Paralysis

Muscle &Nerve, EarlyView.
Pretreatment with an agonist of Kv7 potassium channels (XEN1101) protects the soleus muscle from a loss of force during a 2 mM K+ challenge, in a mouse model of hypokalemic periodic paralysis. ABSTRACT Introduction/Aims Effective management remains lacking for recurrent episodes of acute weakness in hypokalemic periodic paralysis (HypoPP).
Viktor Chanchykov, Sharon Iype, Marbella Quinonez, Fenfen Wu, Stephen Cannon   +4 more
wiley   +1 more source

Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank. [PDF]

Elife
Naseri A, Zhi D, Zhang S.
europepmc   +1 more source

Dysregulated proteolytic cascades in Netherton syndrome: from molecular pathology to preclinical drug testing

The Journal of Pathology, EarlyView.
Abstract Netherton syndrome (NS) is a rare, severe, and often life‐threatening disease for which current therapeutic approaches are limited and show variable effectiveness. NS is characterized by excessive epidermal desquamation that results in a highly defective epidermal barrier, constitutive skin inflammation, allergies, and hair abnormalities.
Eleni Zingkou, Evangelos Bisyris, Georgios Pampalakis, Georgia Sotiropoulou   +3 more
wiley   +1 more source

Analyzing Runs of Homozygosity Reveals Patterns of Selection in German Brown Cattle. [PDF]

Genes (Basel)
Wirth A, Duda J, Emmerling R, Götz KU, Birkenmaier F, Distl O.   +5 more
europepmc   +1 more source

Genetic diversity and runs of homozygosity in Rendena cattle

, 2021
Somenzi, E., Franceschi, N., Barbato, M., Colli, N., Partel E., Komjanc, M., Achilli, A., Hauffe, H. C., Ajmone Marsan, P.   +8 more
openaire   +3 more sources

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois, Louise Paret, Jacqueline Aziza, Paul Guerby, Christophe Vayssière, Charlotte Dubucs   +5 more
wiley   +1 more source

Using Runs of Homozygosity and Machine Learning to Disentangle Sources of Inbreeding and Infer Self-Fertilization Rates. [PDF]

Genome Biol Evol
Zeitler L, Gilbert KJ.
europepmc   +2 more sources

Runs of homozygosity analysis for selection signatures in the Yellow Korean native chicken. [PDF]

Anim Biosci
Kim J, Macharia JK, Kim M, Heo JM, Yu M, Choo HJ, Lee JH.   +6 more
europepmc   +1 more source