research Seborrhea-Like Dermatitis Phenotype in the Mpzl3 Knockout Mice
MPZL3 is crucial for seborrheic dermatitis development.
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research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Stem and Cancer Cells Wnt Long Telomeres
A pathway helps maintain long telomeres in both stem and cancer cells.
research Watching Hair Grow: Intravital Two-Photon Imaging of Hair Follicle Regeneration in Transgenic Mice
Hair grows when stem cell offspring in the follicle base proliferate, influenced by the dermal papilla.
research Ionizing Radiation Triggers Dedifferentiation of Outer Root Sheath Cells Into Stem Cell-Like Progenitors for Hair Follicle Regeneration
research Unveiling the Role of Estradiol in the Pathogenesis of Female Pattern Hair Loss
research Unexpectedly High Carrier Rates and Genotype/Phenotype Correlation: LIPH Mutations in Japanese Autosomal Recessive Woolly Hair/Hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research Birt-Hogg-Dubé Syndrome: From Gene Discovery to Molecularly Targeted Therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research 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 Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Methylenetetrahydrofolate Reductase C677T Mutation in Patients with Alopecia Areata in Turkish Population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research CTLA4 +49AG (rs231775) And CT60 (rs3087243) Gene Variants Are Not Associated With Alopecia Areata In A Mexican Population From Monterrey, Mexico
CTLA4 gene variants are not linked to alopecia areata in Monterrey's Mexican population.
research Normalization of Hair Growth in Sparse Fur-Abnormal Skin and Hair (SPF-ASH) Mice by Introduction of the Rat Ornithine Transcarbamylase (OTC) Gene
Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
research A Combination of Low-Dose Systemic Etretinate and Topical Calcipotriol/Betamethasone Dipropionate Treatment for Hyperkeratosis and Itching in Olmsted Syndrome Associated with a TRPV3 Mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Steatocystoma Multiplex
Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Harlequin Ichthyosis
research Granulomatous Skin Involvement in a Patient with an Unusual NOD2 Mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research The Genetic Basis of Dermatophytosis Skin Infection Susceptibility
Genetic factors affecting skin health and body weight may increase the risk of dermatophytosis.
research Androgen Biosynthetic Pathways in the Human Prostate
DHT in the human prostate is produced through multiple pathways, not just from testosterone.
research Cannabinoid Signaling in the Skin: Therapeutic Potential of the Cutaneous Cannabinoid System
Cannabinoids may help treat various skin conditions.
research NUDT15 R139C-Related Thiopurine Leukocytopenia Is Mediated by 6-Thioguanine Nucleotide-Independent Mechanism in Japanese Patients with Inflammatory Bowel Disease
The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Desmoglein 4 Is Regulated by Transcription Factors Implicated in Hair Shaft Differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.