research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
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research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research 861 EGFR/MEK inhibitor therapy induces partial hair follicle immune privilege collapse in vivo and ex vivo
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Cronkhite-Canada syndrome: case description
An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.
research A case of twenty nail dystrophy affecting a 12 year old boy
A 12-year-old boy with twenty nail dystrophy, a condition affecting all nails, was treated conservatively due to its self-limiting nature and good prognosis.
research Trichodysplasia of immunosuppression treated with oral valganciclovir
Oral valganciclovir improved a patient's skin condition caused by immunosuppression.
research Gene-wide association study between the aromatase gene (CYP19A1) and female pattern hair loss
Aromatase gene variation may increase female hair loss risk.
research Why we should treat COVID-19 Long-Hauler Syndromes with Convalescent Plasma; Contained Suppressive Exosomes are likely COVID antigen-specific
Convalescent Plasma Therapy may help treat COVID-19 Long-Hauler symptoms.
research Faculty Opinions recommendation of Keratin 79 identifies a novel population of migratory epithelial cells that initiates hair canal morphogenesis and regeneration.
Keratin 79 cells help form and regenerate hair canals.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research 1379 Cyclosporin A suppresses TGF-β2 expression via calcineurin/NFAT pathway in human dermal papilla cells
Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
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 effect of COVID ‐19 on development of hair and nail disorders: a Turkish multicenter, controlled study
COVID-19 can cause hair and nail disorders after infection.
research New frontiers in CRISPR/Cas9 delivery systems delivery for gene editing
Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
research Hair Loss and Polyposis in Cronkhite-Canada Syndrome
Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research A Case of Cronkhite-Canada Syndrome Involving the Entire Gastrointestinal Tract
Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
research Intermittent chronic telogen effluvium with an unusual dermoscopic finding
A 17-year-old girl has had repeated hair loss since childhood, which can be triggered by infections like COVID-19.
research Cancer vaccine strategies and studies of human thioredoxin reductase splice variants
Vaccines and targeting TrxR variants can help prevent cancer and reduce metastasis.
research LB1256 TRIV-509, a dual inhibitor of KLK5 and KLK7, rapidly improves barrier integrity and markers of epidermal differentiation in atopic dermatitis skin explants
TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
research scRNA+TCR-seq Reveals the Proportion and Characteristics of Dual TCR Treg Cells in Mouse Lymphoid and Non-lymphoid Tissues
Dual TCR Treg cells are common in various mouse tissues and show diverse characteristics.
research Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis
FGF13 gene changes cause excessive hair growth in a rare condition.
research 9-cis-Retinoic Acid Capsules in the Treatment of AIDS-Related Kaposi Sarcoma
9-cis-retinoic acid showed some effectiveness in treating AIDS-related Kaposi sarcoma but had significant side effects at higher doses.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
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.