research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
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research Molecular studies of transient receptor potential Vanilloid 3 (TRPV3)
TRPV3 channels are involved in skin processes and are affected by shear stress, influencing itch and mechanotransduction.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
research Effects of different concentrations of androgens on KAP24.1 gene expression in Hetian sheep and Karakul sheep
Different androgen concentrations affect wool-related gene expression differently in Hetian and Karakul sheep breeds.
research 396 Vδ1 + T-cells are stress-sentinels in human skin and are implicated in alopecia areata pathogenesis
Vδ1+ T-cells in the skin contribute to hair loss in alopecia areata and could be targeted for treatment.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research 1410 Single-cell RNA sequencing reveals POUF51 and HES3 as regulators of the stem cell population in psoriasis
POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study mapped genetic variations in sheep, linking them to traits like milk production and growth.
research The vitamin D receptor functions as a transcription regulator in the absence of 1,25-dihydroxyvitamin D3
The vitamin D receptor can regulate genes and affect hair and hormone levels without its usual activator.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Faculty Opinions recommendation of The vitamin D receptor is a Wnt effector that controls hair follicle differentiation and specifies tumor type in adult epidermis.
The vitamin D receptor helps control hair growth and may protect against certain skin tumors.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation
The condition is linked to chromosome 12, but no mutations were found in the known genes.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
Chinese fine-wool sheep have genetic variations linked to traits like milk and health, with some genes under strong selection.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Spatial transcriptomics of a giant pilomatricoma
The analysis of a large pilomatricoma revealed five distinct areas with different gene activity related to hair growth and tumor development.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research The promoter of an androgen dependent gene in the hamster flank organ
Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.