research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
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research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Transcriptomic regulation of seasonal coat color change in hares
Genes related to pigmentation, body rhythms, and behavior change during hares' seasonal coat color transition, with a common genetic mechanism in two hare species.
research Epidermal growth factor, innovation and safety
Recombinant human epidermal growth factor is versatile, effective, and safe for long-term skin and mucosal treatments.
research Recent advances in drug repositioning and rediscovery for different therapeutic activities utilizing updated technological approaches
Using existing drugs for new treatments is cost-effective and safer.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research Role of the Wnt signaling pathway in keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
research Acne and acneiform eruptions
Early treatment of acne is crucial to prevent scarring and psychological effects.
research Identification of the key proteins associated with different hair types in sheep and goats
Different proteins are linked to the varying thickness of sheep and goat hair types.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research A Review and Meta-Analysis of the Prevalence and Health Impact of Polycystic Ovary Syndrome Among Medical and Dental Students
PCOS affects nearly 25% of female medical and dental students, impacting their academic and social lives.
research Vitamin D, Lipid Metabolism and Prostate Cancer
Vitamin D may help regulate cholesterol and influence prostate cancer development.
research Skin penetration of active folate salts and their effects on wound healing in vitro: new approaches for dermal folate application
Folate salts penetrate skin well and improve wound healing, suggesting potential for skin treatments.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Signaling pathways in the mechanisms of drug action
Signaling pathways are key targets for developing effective drugs.
research Impacto del desequilibrio del microbioma del cuero cabelludo en la severidad de la alopecia areata, marcadores inflamatorios y cambios post-tratamiento
An imbalanced scalp microbiome may worsen alopecia areata severity and inflammation, but treatment can partially restore balance.
research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
research Irradiation-induced hair graying in mice: an experimental model to evaluate the effectiveness of interventions targeting oxidative stress, DNA damage prevention, and cellular senescence
Using radiation to make mice's hair turn gray helps study and find ways to prevent or reverse hair graying.
research Label-free proteomics to identify keratins and keratin-associated proteins and their effects on the fleece traits of Inner Mongolia Cashmere Goats
Proteins influence the quality and traits of cashmere goat fleece, affecting hair strength and diameter.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential
The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Transcriptomic insights into the effects of tyrosine on sub-Columbian plumage in H line chickens
A 1.0% tyrosine diet increases melanin in chicken feathers.
research Caractérisation d’une modification «bigarré» de la couleur du pelage chez le chat domestique
Variegated coat color in cats is linked to the Silver locus.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes (Hospitalization and Surgery)
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research Re-discovery of Trichophyton bullosum in North Africa as a cause of severe dermatophytosis in donkeys
Trichophyton bullosum has been found causing severe skin infections in donkeys in North Africa for the first time since 1933.
research Anogenital distance as a biomarker for incomplete masculinization : Molecular mechanisms in the perineum
A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
research Index
The document is a detailed medical reference on skin and genetic disorders.