research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
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research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Analysis of Genome DNA Methylation at Inherited Coat Color Dilutions of Rex Rabbits
Inherited color dilution in rabbits is linked to DNA methylation changes.
research A case report of a novel homozygote mutation causing severe Leydig cell hypoplasia: insights in the coexistence of nonsense mutation and polymorphism in the same LHCGR gene locus
A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
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 Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research DYS459, DYS391, DYS388 and DYS19 genetic loci have high allelic frequency in patients with prostate cancer
Certain genetic markers may increase or decrease prostate cancer risk.
research Analysis of gene expression patterns and levels in maize hybrids and their parents
Maize hybrids show better early growth due to complex gene interactions from their parent strains.
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures during Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan
Polycystic ovary syndrome is a complex condition that affects women's mental, reproductive, and metabolic health throughout their lives.
research Hair growth promoting effects of adipose tissue-derived stem cells
Fat tissue stem cells may help increase hair growth.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research The Polycystic Ovary Syndrome Evolutionary Paradox: a Genome-Wide Association Studies–Based, in silico, Evolutionary Explanation
The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
research Frontal fibrosing alopecia
Hormonal imbalances may play a role in frontal fibrosing alopecia, and antiandrogenic drugs combined with steroids are currently the most effective treatment.
research Hair follicle morphogenesis and epidermal homeostasis in we/we wal/wal mice with postnatal alopecia
The we/we wal/wal mice have defects in hair growth and skin layer formation, causing hair loss, useful for understanding alopecia.
research Alopecia in women submitted to childhood X-ray epilation for tinea capitis treatment
Women treated with X-ray for scalp fungus as children had a higher chance of hair loss, especially with higher radiation doses and severe fungus infections.
research Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Occurrence of raspberry gall midge Lasioptera rubi Schrank (Diptera, Cecidomyiidae) in some raspberry cultivars.
Selenium imbalance can cause hair loss and skin issues.
research Alopecia universalis after discontinuation of pegylated interferon and ribavirin combination therapy for hepatitis C: a case report
A man lost all his hair after stopping hepatitis C treatment and it didn't grow back.
research The hair growth promoting effect of 4-O-methylhonokiol
4-O-methylhonokiol from Magnolia officinalis significantly promotes hair growth.
research Hormonal Control of Cardiac Action Potential Phase 1 Currents in the Brugada Syndrome
Androgens may increase arrhythmias in Brugada Syndrome, while Finasteride could reduce them.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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.