Results 41 to 50 of about 718 (127)

Deciphering Pleiotropic Single‐Nucleotide Polymorphisms Governing Fertility–Milk Yield Trade‐Offs in Dairy Cattle: A Genome‐Wide Chromosomal Landscape Analysis

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Fertility and milk production in dairy cattle are economically significant traits, but they exhibit an unfavorable genetic correlation, making simultaneous improvement challenging. Identifying pleiotropic genes that influence both traits can provide valuable insights for genomic selection.
Heydar Ghiasi, Majid Khaldari, Reza Taherkhani, Navid Ghavi Hossein-Zadeh, Zhenyu Gong   +4 more
wiley   +1 more source

Molybdenum cofactor deficiency due to MOCS2 mutation

, 2012
Molybdenum cofactor deficiency causes severe neonatal metabolic disease, seizures and death or severe brain damage. The cofactor forms the active site in aldehyde oxidase, xanthine oxidoreductase, mitochondrial amidoxime reducing component and sulphite ...
Allgood, Catherine (x), Chin, Raymond (R17897), Edwards, Matthew (R16367), Whitehall, John (R15925), Santamaria, Jose A., Schwarz, Gunter, Roeper, Juliane, Wong, Flora   +7 more
core   +1 more source

Whole‐genome sequencing analysis of Japanese autism spectrum disorder trios

Psychiatry and Clinical Neurosciences, Volume 79, Issue 3, Page 87-97, March 2025.
Aim Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous neurodevelopmental disorder with a strong genetic basis. Conducting the first comprehensive whole‐genome sequencing (WGS) analysis of Japanese ASD trios, this study aimed to elucidate the clinical significance of pathogenic variants and enhance the understanding of ASD
Sawako Furukawa, Itaru Kushima, Hidekazu Kato, Hiroki Kimura, Yoshihiro Nawa, Branko Aleksic, Masahiro Banno, Maeri Yamamoto, Mariko Uematsu, Yukako Nagasaki, Tomoo Ogi, Norio Ozaki, Masashi Ikeda   +12 more
wiley   +1 more source

The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons

, 2002
The bicistronic MOCS1 gene encodes two enzymatic activities that are necessary for the biosynthesis of the molybdenum cofactor (MoCo). Mutations in either of the two consecutive open reading frames are responsible for the majority of MoCo deficiency ...
Gross-Hardt, S., Reiss, Jochen
core   +1 more source

Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature

The Application of Clinical Genetics, 2020
MC Alonzo Martínez,1 E Cazorla,1 E Cánovas,1 K Anniuk,1 AE Cores,2 AM Serrano1 1Department of Obstetrics and Gynecology, Hospital Universitario de Torrevieja, Torrevieja, Alicante, Spain; 2Department of Radiology, Hospital Universitario de ...
Alonzo Martínez MC, Cazorla E, Cánovas E, Anniuk K, Cores AE, Serrano AM   +5 more
doaj  

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle

Journal of Veterinary Internal Medicine, Volume 38, Issue 6, Page 3346-3357, November/December 2024.
Abstract Background Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half‐sibling calves from consanguineous mating with congenital skeletal malformations and cardiac abnormalities were identified.
Joana G. P. Jacinto, Tolulope G. Ogundipe, Cinzia Benazzi, Irene M. Häfliger, Luisa V. Muscatello, Marilena Bolcato, Riccardo Rinnovati, Arcangelo Gentile, Cord Drögemüller   +8 more
wiley   +1 more source

Identification of candidate intergenic risk loci in autism spectrum disorder [PDF]

, 2018
Background Copy number variations (CNVs) and DNA sequence alterations affecting specific neuronal genes are established risk factors for Autism Spectrum Disorder (ASD).
Walker, Susan, Scherer, Stephen W
core   +1 more source

When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population

American Journal of Medical Genetics Part A, Volume 194, Issue 8, August 2024.
Abstract Mental illnesses are one of the biggest contributors to the global disease burden. Despite the increased recognition, diagnosis and ongoing research of mental health disorders, the etiology and underlying molecular mechanisms of these disorders are yet to be fully elucidated.
Venuja Sriretnakumar, Ricardo Harripaul, James L. Kennedy, Joyce So   +3 more
wiley   +1 more source

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant

Clinical Case Reports, Volume 12, Issue 7, July 2024.
Key Clinical Message Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring. Abstract Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum‐dependent enzymes ...
Jamal Sayed, Abdallah Nasir, Ahmed Gamal Sayed, Omar A. Alghamdi, Elaf Jameel Alsharif   +4 more
wiley   +1 more source

Tiermodelle der Molybdän-Cofaktor-Defizienz und ihre Therapie [PDF]

, 2009
Die Molybdän-Cofaktor (MoCo) -Defizienz ist eine autosomal rezessiv vererbte Krankheit. An der MoCo-Biosynthese beim Menschen sind verschiedene Enzyme beteiligt, die von den Genen MOCS1, MOCS2, MOCS3 und GEPH kodiert werden.
Hahnewald, Rita
core   +1 more source