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.
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420-450 / 1000+ resultsresearch Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Androgen receptor gene CAG and GGN polymorphisms in infertile Nigerian men
Certain gene variations are not a major cause of male infertility in Nigerian men.
research Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker
A genetic marker linked to a type of hair loss was found in most patients studied.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Association between TLR1 polymorphisms and alopecia areata
A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Evidence for Genetic Heterogeneity in Monilethrix
research Variation in the Exon 3–4 Region of Ovine KRT85 and Its Effect on Wool Traits
KRT85 gene variations can help improve wool traits in sheep through selective breeding.
research 102 Methylation of CpG islands in promoter of type 2 5-α reductase and implications of finasteride resistance for BPH therapy
Methylation in specific gene region causes finasteride resistance in some BPH patients.
research PolyQ length co-evolution in neural proteins
PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
A genetic mutation in the LIPH gene causes tightly curled hair that stops growing in some Japanese individuals.
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 Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
A specific genetic mutation may increase male pattern baldness risk, especially in Europeans.