research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
Search
for
Sort by
Research
720-750 / 1000+ results research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Faculty Opinions recommendation of Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
Six new genes linked to early hair loss were found, which also surprisingly connect to Parkinson's disease and lower fertility.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research CD27 and IL-35 as diagnostic biomarkers in alopecia areata: First evidence of association with pathogenic scalp bacterial infections
CD27 and IL-35 can help diagnose alopecia areata linked to bacterial infections.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Borderline Tuberculoid leprosy of the scalp mimicking alopecia areata-vitiligo overlap syndrome: A case report
A woman's hair loss and skin discoloration were found to be caused by a rare case of leprosy on the scalp, not alopecia-vitiligo overlap.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research 129 Genetic transformation of keratoacanthoma-type cutaneous squamous cell carcinoma following intralesional chemotherapy
Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
research Functional interrogation of lymphocyte subsets in alopecia areata using single-cell RNA sequencing
CD8+ T cells drive alopecia areata, while regulatory T cells are protective.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
research Follicular vitiligo: A rare clinical variant of a common entity
Follicular vitiligo causes hair to gray without skin color loss.
research Development and validation of the Brigham Eyelash Tool for Alopecia (BELA): A measure of eyelash alopecia areata
The Brigham Eyelash Tool for Alopecia (BELA) is a reliable way to measure eyelash loss in alopecia areata patients.
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 A splice variant in KRT71 is associated with curly coat phenotype of Selkirk Rex cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
![Influence of FHIT on Benzo[a]pyrene-Induced Tumors and Alopecia in Mice: Chemoprevention by Budesonide and N-Acetylcysteine](/images/research/f8f56777-f891-4879-8c45-c87d6aa82563/small/35499.jpg)
research Influence of FHIT on benzo[ a ]pyrene-induced tumors and alopecia in mice: Chemoprevention by budesonide and N -acetylcysteine
Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Combing the genome for the root cause of baldness
Two key genetic areas linked to male-pattern baldness were identified.
research Recombinant Bacillus subtilis-derived alkaline protease: a novel agent for skin depigmentation and hair follicle neogenesis
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.