Results 151 to 160 of about 114,605 (302)

Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review. [PDF]

Case Rep Endocrinol
Nguyen CS, Adams N, Gianatti E, Lee IL, Kevat D.   +4 more
europepmc   +1 more source

14‐3‐3 proteins: Regulators of cardiac excitation–contraction coupling and stress responses

The Journal of Physiology, EarlyView.
Abstract figure legend 14‐3‐3 protein interactions in cardiac regulation. Schematic representation of 14‐3‐3 binding partners in excitation–contraction coupling, transcriptional regulation/development and stress response pathways. Asterisks indicate targets where the exact 14‐3‐3 binding site is unknown.
Heather C. Spooner, Rose E. Dixon
wiley   +1 more source

Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype-Genotype Based on Next-Generation Sequencing (Variants of <i>APC, MSH6</i>, and <i>CACNA1S</i> Genes). [PDF]

Diagnostics (Basel)
Carsote M, Schipor SV, Dumitrascu A, Gheorghe AM, Sima OC, Manda D, Costachescu M, Muresan A, Preda EM, Terzea D.   +9 more
europepmc   +1 more source

Mucopolysaccharidosis IIID and Beta‐Mannosidosis in Brazilian Anglo‐Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo‐Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the ...
Flávia Caroline Moreira Bezerra, Lívia Samaniely Batista Pereira Belli, Joane Maíra Cavalcante Braga Novais, Adriana Mércia Guaratini Ibelli, Cássia Regina Oliveira Santos, Gisele Veneroni Gouveia, Alexandre Tadeu Mota Macedo, João José de Simoni Gouveia   +7 more
wiley   +1 more source

Estimating Effective Number of Breeders Under the Heterozygote-Excess Equilibrium. [PDF]

Mol Ecol Resour
Yang B, Wang D, Shen Y, Li W, Wang H, Wang R, Peng R, Zhang S, Xia Z, Dunn DW, Huang K, Li B.   +11 more
europepmc   +1 more source

Straightened Small Pinnae in TRPV4 c.1024G>T Heterozygous Cats

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT The folded‐ear phenotype of Scottish Fold cats results from a dominant variant of the TRPV4 gene (c.1024G>T). Producing homozygous individuals is discouraged due to severe osteochondrodysplasia and identifying heterozygous carriers is critical for breeding.
Yuki Matsumoto, Ryuga Ishii, Hisashi Ukawa, Saaya Hiyoshi‐Kanemoto, Hinako Hayashi, Haruka Onishi, Kai Ataka, Ryo Horie   +7 more
wiley   +1 more source

Impact of genetic profiles on periventricular anastomosis following bypass surgery in moyamoya disease. [PDF]

Neurosurg Rev
Torazawa S, Miyawaki S, Imai H, Hongo H, Shimizu M, Ono H, Ogawa S, Sakai Y, Kiyofuji S, Koizumi S, Komura D, Katoh H, Ishikawa S, Saito N.   +13 more
europepmc   +1 more source

heterozygote advantage

Citation: 'heterozygote advantage' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.14743 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +1 more source

Genetic Evidence of a Recent Decline and Crossbreed Distribution of TRPV4 c.1024G>T Variant in Domestic Cats

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT The folded ear phenotype of Scottish Fold cats is associated with an autosomal dominant TRPV4 variant (c.1024G>T) linked to osteochondrodysplasia. Although genetic testing has been implemented to guide breeding, empirical evidence of its impact on allele frequency remains limited, and crossbreed investigations are lacking.
Hisashi Ukawa, Ayako Akashi, Hinako Hayashi, Saaya Hiyoshi‐Kanemoto, Haruka Onishi, Kai Ataka, Yuki Matsumoto   +6 more
wiley   +1 more source

Population Structure and Genetic Diversity Among Lipizzan Mare Families in Hungary Based on Microsatellite Genotyping. [PDF]

Animals (Basel)
Kovács M, Hegedűs B, Mihók S, Knop R, Szabó C, Posta J.   +5 more
europepmc   +1 more source