research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
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900-930 / 1000+ resultsresearch Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
Improving CRISPR/Cas systems can make gene editing more efficient and precise.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals
Marine mammals lost many α-keratin genes, aiding their adaptation to aquatic life by becoming hairless.
research Keratins: the hair shaft's backbone revealed
Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Unleashing the Furry Beast: Exploring the Fascinating World of Hypertrichosis Lanuginosa
Hypertrichosis lanuginosa causes excessive fine hair growth, often linked to genetics or cancer, with limited treatment options.
research Genome-Wide Association Studies of Hair Whorl in Pigs
Genes affect pig hair patterns, aiding better breeding.
research Biology of hair pigmentation and its role in premature canities
Early hair graying is often inherited and influenced by genetics, environment, and lifestyle, but treatment options are limited.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research The Biology and Genomics of Human Hair Follicles: A Focus on Androgenetic Alopecia
Hair loss in Androgenetic Alopecia is caused by genetics, aging, and lifestyle, leading to hair follicle shrinkage and related health risks.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy
Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
research Epidemiological study of prostate cancer (EPICAP): a population-based case–control study in France
Circadian rhythm disruption, chronic inflammation, hormones, metabolism, and genetics may increase prostate cancer risk.
research Hair cross-sectioning in uncombable hair syndrome: An easy tool for complex diagnosis
The document suggests finding a simpler, cheaper way to diagnose Uncombable Hair Syndrome.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report
A 6-year-old girl had both monilethrix and trichorrhexis nodosa, causing brittle hair, with minimal improvement from treatment.
research The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles.
TRPS1 is crucial for bone, kidney, and hair follicle development.
research Long-term Prophylaxis with Androgens in the management of Hereditary Angioedema (HAE) in emerging countries
Long-term use of androgens can help manage Hereditary Angioedema (HAE) but may cause serious side effects, so alternative treatments with fewer side effects are being considered.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a syrian family
A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
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 Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.