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840-870 / 1000+ resultsresearch Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research Polymorphism of Keratin Gene KRT71 and Its Relationship with Wool Properties in Gansu Alpine Fine-Wool Sheep
The GG genotype of the KRT71 gene leads to longer wool in Gansu alpine fine-wool sheep.
research Traumatic panniculitis with localized hypertrichosis: Two new cases and considerations
Traumatic panniculitis can cause increased hair growth in affected areas.
research Gene Therapy: Recent Advances and Applications in Dermatology
Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: Case report from a low-resource setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research Localized acquired hypertrichosis on a miner’s shoulder: case report
A miner developed extra shoulder hair due to long-term work pressure and inflammation.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Sexual dimorphism of growth plate prehypertrophic and hypertrophic chondrocytes in response to testosterone requires metabolism to dihydrotestosterone (DHT) by steroid 5‐alpha reductase type 1
Male cells need DHT to respond to testosterone, while female cells do not.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research Moth eaten alopecia as the only manifestation of syphilis: a case from Nepal
Moth-eaten hair loss can be a sign of syphilis.
research Keratin disorders: from gene to therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research 0960 Evidence for resident memory T cells and necroptosis as drivers of fibrosis in eosinophilic fasciitis and morphea
Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
research TRICOSCOPIA – ESTRUTURAS TRICOSCÓPICAS E SUA APLICABILIDADE NAS PATOLOGIAS DO CABELO E DO COURO CABELUDO
Trichoscopy is useful for diagnosing and monitoring hair and scalp conditions.
research Antroquinonol Exerts Immunosuppressive Effect on CD8+ T Cell Proliferation and Activation to Resist Depigmentation Induced by H2O2
Antroquinonol may help prevent skin depigmentation by suppressing certain immune cells.
research Moth-eaten alopecia
"Moth-eaten alopecia" can be a sign of secondary syphilis, treatable with penicillin.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research CONGENITAL ATRICHIA.*
Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
research LBMON232 A Hairy Situation: Ovarian Sex Cord Stromal Tumor As A Rare Cause Of Hyperandrogenism
A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
research Ovarian hyperthecosis in adolescent females: two case reports and a review of the literature
Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Delayed Puberty
A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
research An 85-Year-Old Man With Recurrent Fever and Multiple Splenic Infarcts
Travel history and tick-borne diseases should be considered in unexplained fevers for timely diagnosis and treatment.