research Estudo da diversidade dos genes MC1R e SLC24A5 em populações globais: avaliação de aspectos evolutivos e ambientais
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
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research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research Le gènehairlessde la souris
The hairless gene is crucial for hair health, and its mutations cause hair loss.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Acquired immunogenicity of DNA after modification with malondialdehyde in patients with alopecia areata
Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.
research Expression of the human Cathepsin L inhibitor hurpin in mice: skin alterations and increased carcinogenesis
Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
research Poster presentationsDP11 Bright, eosinophilic intracytoplasmic inclusion bodies: a rare presentation of acquired epidermodysplasia verruciformis with widespread human papillomavirus infection in a transplant recipient
A rare case of a transplant patient developing a skin condition linked to HPV-49.
research Molecular elements of the regulatory control of keratin filament modulator AHF/trichohyalin in the hair follicle
The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
research Cutaneous manifestations of dabrafenib (GSK2118436): a selective inhibitor of mutant BRAF in patients with metastatic melanoma
Dabrafenib can cause skin growths and sometimes low-grade skin cancer.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
research C3-C4 shingles post haematopoietic stem-cell transplantation
A 12-year-old boy had severe shingles and skin damage after a stem-cell transplant.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Data from Elevated Cutaneous Smad Activation Associates with Enhanced Skin Tumor Susceptibility in Organ Transplant Recipients
Higher TGF-β signaling may increase skin cancer risk in organ transplant recipients.
research Single‐center study to determine the safety and efficacy of CT‐707 in Chinese patients with advanced anaplastic lymphoma kinase‐rearranged non‐small‐cell lung cancer
CT-707 is effective and safe for treating certain Chinese lung cancer patients.
research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research 1421 Primary cutaneous diffuse large B-cell lymphoma–leg type masquerading as a mucocele
An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Investigation of the male pattern baldness major genetic susceptibility loci AR/EDA2R and 20p11 in female pattern hair loss
AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
research 90 Exploring the therapeutic potential of DHODH inhibitor farudodstat for alopecia areata treatment in a novel ex vivo model of human hair follicle immune privilege collapse
Farudodstat may effectively treat alopecia areata without harming hair follicles.
research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Skin Diseases and Sexually Transmitted Infections among Patients with HIV infection/AIDS referred at the City Institute for Skin and Venereal Diseases in Belgrade: a Case Series of 38 Patients
HIV-positive patients, especially men who have sex with men, had a high rate of skin diseases and sexually transmitted infections.
research Genetically predicted levels of circulating cytokines and the risk of six immune skin diseases: a two-sample Mendelian randomization study
Certain cytokines may cause or be affected by immune skin diseases, suggesting possible new treatments.
research Translation, cultural adaptation and validation of the Brazilian version of the Alopecia Areata Quality of Life Index (AA-QLI-BRA)
The Brazilian version of the Alopecia Areata Quality of Life Index is reliable for assessing patients' quality of life.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.