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research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
This study introduced a statistical method, PLACO, which revealed novel genetic regions associated with both Type 2 Diabetes and Prostate Cancer from GWAS data.
research Autoimmune polyendocrine syndrome type 1 a case report from Bangladesh
This case report describes a 26-year-old man from Bangladesh diagnosed with autoimmune polyendocrine syndrome type 1, a rare endocrine disorder involving adrenocortical insufficiency, hypoparathyroidism, and mucocutaneous candidiasis.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
This study found that hair root sheaths can be accurately typed for erythrocyte acid phosphatase, adenylate kinase, and adenosine deaminase, consistent with blood typing results from the same donors.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target
This study found that CD2 could be a potential new therapeutic target for treating patchy-type alopecia areata, suggesting the need for further research into its role.
research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk
This meta-analysis suggests that certain VEGF gene polymorphisms may be linked to polycystic ovary syndrome risk, potentially serving as early detection biomarkers.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
This review discusses the association between androgen receptor CAG repeat polymorphism and several health conditions, including Kennedy’s disease and urologic disorders, without reporting new clinical results.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
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 CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico
This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.
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 A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
research Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
research hKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex
In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
research Evolution in action: highlighting a role for the Agouti gene in development?
This study found that changes in the expression of the Agouti gene contribute to the pale pigmentation in beach mice, with implications for melanocyte development and localization.
research 원저 : 한국인 안드로겐 탈모증 환자에서 안드로겐 수용체의 CAG 반복 다형성에 관한 연구 -Preliminary Report-
This study suggests that androgen receptor CAG polymorphisms may not significantly influence androgenetic alopecia susceptibility in Korean men.
research Human Hair Keratin-Associated Proteins
This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
research JAK-centric explainable few-shot gene-expression diagnosis framework for alopecia via MultiPLIER priors and relation-style set-to-set comparison
This study identified a four-gene loop as a non-invasive biomarker that selectively activates in alopecia areata, providing a precise target for JAK inhibitor treatments.
research Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families
This study did not find any correlation or linkage disequilibrium between androgen receptor gene CAG/GGC haplotypes and androgenetic alopecia in Mexican brothers.
research Molecular basis of congenital atrichia in humans and mice.
This review discusses molecular genetic approaches to understanding and treating hair loss disorders like papular atrichia, highlighting potential future gene-based therapies, but reports no new clinical findings.
research The impact of certain genetic variants (single nucleotide polymorphisms) on incidence and severity of COVID‐19
Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
research Index of Suspicion
This case study reports a teenage boy with juvenile polyposis syndrome, presenting with microcytic anemia, growth failure, and rectal bleeding, leading to the diagnosis following colonoscopy and histologic examination of colonic polyps.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
This study found that inhibiting AP-1 activity in mice can induce lineage transdifferentiation between squamous and sebaceous tumors, suggesting AP-1's role in maintaining tumor cell identity.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
research Identification of the KAP27-1 gene in sheep and its effect on wool traits
This study found that variation in the ovine KRTAP27-1 gene may influence wool growth, with certain genotypes associated with higher mean staple length and greasy fleece weight in sheep.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.