research Clinical Snippets
New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
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research Selected variants of the melanocortin 4 receptor gene (MC4R) do not confer susceptibility to female pattern hair loss
MC4R gene variants not linked to female hair loss.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research INDENTIFICATION OF GENES INVOLVED IN INHERITED ECTODERMAL DYSPLASIAS
Mutations in specific genes cause different types of ectodermal dysplasias.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
Two specific genetic markers increase the risk of hair loss in Asian populations.
research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
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 Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Involvement of the bulge region with decreased expression of hair follicle stem cell markers in senile female cases of alopecia areata
Decreased CD200 in hair follicles may cause immune issues in some alopecia areata cases.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Keratinocyte Cytokine Networks Associated with Human Melanocytic Nevus Development
Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
research Unravelling the threads of central centrifugal cicatricial alopecia
Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness
A gene called HDAC9 might be a new factor in male-pattern baldness.
research Unique Tumor Heterogeneity Within a Single Locally Advanced Basal Cell Carcinoma Resulting in Partial Response Despite Continuous Vismodegib Treatment
Different tumor cells in one basal cell carcinoma can cause mixed treatment responses, suggesting personalized treatment is needed.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research A genome‐wide association study identified a genetic variant associated with hair thinning in Japanese women
A genetic variant linked to hair thinning in Japanese women was found.
research The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research Site of beige (bg) and leaden (ln) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (Wsh) homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Fibrosing alopecia in a pattern distribution in two brothers with pili multigemini
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
research The Molecular Pathogenesis of Trichilemmal Carcinoma
Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
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.