Four novel candidate causal variants for deficient homozygous haplotypes in Holstein cattle

IM Häfliger, M Spengeler, FR Seefried… - Scientific reports, 2022 - nature.com
Mendelian variants can determine both insemination success and neonatal survival and
thus influence fertility and rearing success of cattle. We present 24 deficient homozygous …

[HTML][HTML] Selected Monogenic Genetic Diseases in Holstein Cattle—A Review

M Gozdek, S Mucha, A Prostek, T Sadkowski - Genes, 2024 - mdpi.com
Genetic disorders arise from alterations in the hereditary information encoded in DNA,
leading to potential detrimental effects on the well-being and vitality of organisms. Within the …

Association Study Between Kynurenine 3-Monooxygenase (KMO) Gene and Parkinson's Disease Patients

HWS Babu, A Elangovan, M Iyer, L Kirola… - Molecular …, 2024 - Springer
The influence of various risk factors such as aging, intricate cellular molecular processes,
and lifestyle factors like smoking, alcohol consumption, caffeine intake, and occupational …

Identification of homozygous haplotypes carrying putative recessive lethal mutations that compromise fertility traits in French Lacaune dairy sheep

M Ben Braiek, S Fabre, C Hozé, JM Astruc… - Genetics Selection …, 2021 - Springer
Background Homozygous recessive deleterious mutations can cause embryo/fetal or
neonatal lethality, or genetic defects that affect female fertility and animal welfare. In …

Mining massive genomic data of two Swiss Braunvieh cattle populations reveals six novel candidate variants that impair reproductive success

IM Häfliger, FR Seefried, M Spengeler… - Genetics Selection …, 2021 - Springer
Background This study was carried out on the two Braunvieh populations reared in
Switzerland, the dairy Brown Swiss (BS) and the dual-purpose Original Braunvieh (OB). We …

Reverse genetic screen for deleterious recessive variants in the Local Simmental cattle population of Switzerland

IM Häfliger, FR Seefried, C Drögemüller - Animals, 2021 - mdpi.com
Simple Summary Today's Swiss Simmental represents a local dual-purpose breed of cattle.
Within closed populations, deleterious variants can reach problematic frequencies …

A Nonsense Variant in CCDC65 Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep

M Ben Braiek, C Moreno-Romieux, C Allain, P Bardou… - Genes, 2021 - mdpi.com
We recently demonstrated that the Lacaune deficient homozygous haplotype 6 (LDHH6)
potentially hosts a recessive perinatal lethal mutation in Lacaune dairy sheep mapped on …

Abnormal expression of centromere protein U is associated with hepatocellular cancer progression

Y Yu, X Chen, W Zhang, J Liu - BioMed Research International, 2021 - Wiley Online Library
Background. Hepatocellular carcinoma (HCC) is one of the most common malignancies
globally, but its molecular mechanism is unclear. Abnormal expression of centromere …

[HTML][HTML] Imputation accuracy and carrier frequency of deleterious recessive defects in Australian dairy cattle.

I van den Berg, TV Nguyen, TTT Nguyen, JE Pryce… - Journal of Dairy …, 2024 - Elsevier
Widespread genotyping has enabled the identification of putative recessive mutations that
affect fertility through early embryonic fetal loss, or compromise neonate or calf viability. The …

Metataxonomic analysis of the uterine microbiota associated with low fertility in dairy cows using endometrial tissues prior to first artificial insemination

T Yagisawa, J Uchiyama… - Microbiology …, 2023 - Am Soc Microbiol
The deterioration in reproductive performance in association with low fertility leads to
significant economic losses on dairy farms. The uterine microbiota has begun to attract …