research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
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research PSXIV-17 Examining Mammary Gland Transcriptomic Profiles Using Rna-Seq in Slick and Wild-Type Haired Holstein Cattle Under Tropical Conditions
SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Association of methionine synthase gene polymorphisms with wool production and quality traits in Chinese Merino population12
The MTR gene affects wool quality and production in Chinese Merino sheep.
research Several variants on chromosome 10 are associated with coarse hair diameter in Dazu black goats (Capra hircus)
Variants on chromosome 10 affect hair thickness in Dazu black goats.
research THE EXPRESSION AND INTERACTION OF HEREDITARY FACTORS PRODUCING HYPOTRICHOSIS IN THE MOUSE: HISTOLOGY AND EXPERIMENTAL RESULTS
Hereditary factors cause hair loss in mice by affecting skin and hair follicle structure.
research Case-Only Trees and Random Forests for Exploring Genotype-Specific Treatment Effects in Randomized Clinical Trials with Dichotomous End Points
Case-only trees and random forests improve predictions of treatment effects in clinical trials.
research Association of atopic dermatitis with autoimmune diseases: A bidirectional and multivariable two-sample mendelian randomization study
Atopic dermatitis increases the risk of some autoimmune diseases.
research A genetic electrophoretic variant of high-sulfur hair proteins for forensic hair comparisons. I. Characterization of variant high-sulfur proteins of human hair.
A genetic hair protein variant is more common in Japanese people and is inherited.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research A review of genotrichoses and hair pathology associated with inherited skin diseases
Next-generation sequencing greatly improves understanding and treatment of genetic hair disorders.
research Canonical prolactin signaling and global mRNA expression in the skin of Holstein heifers carrying the SLICK1 allele of the prolactin receptor gene
The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research In situ labeling of DNA reveals interindividual variation in nuclear DNA breakdown in hair and may be useful to predict success of forensic genotyping of hair
In situ DNA labeling in hair can help predict forensic DNA analysis success.
research 706 Engrailed-1 promotes eccrine sweat gland development in permissive environments
The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
research Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems
Genetic screening can help diagnose and manage infertility in Slovenian couples.
research Sparse haplotype-based fine-scale local ancestry inference at scale reveals recent selection on immune responses
Recent selection on immune response genes was identified across seven ethnicities.
research The Postnatal Offspring of Finasteride-Treated Male Rats Shows Hyperglycaemia, Elevated Hepatic Glycogen Storage and Altered GLUT2, IR, and AR Expression in the Liver
Finasteride-treated male rats' offspring had altered glucose metabolism, potentially increasing diabetes risk.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Mapping of cis-acting expression quantitative trait loci in human scalp hair follicles
Researchers identified genes in scalp hair follicles that may affect hair traits and hair loss.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Evaluation of phenotypic risk indicators for the development of alopecia X (hair cycle arrest) in Pomeranian dogs in the Netherlands and Belgium
Male Pomeranians with woolly coats are more likely to develop alopecia X.
research Polymorphism in the A2M gene associated with high-quality milk in Murrah buffaloes (Bubalus bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Dynamic changes of genomic methylation profiles at different growth stages in Chinese Tan sheep
DNA methylation changes in Tan sheep affect growth and fur traits.