research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
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research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Analysis of alopecia areata surveys suggests a threshold for improved patient-reported outcomes
A SALT score of ≤ 20 indicates meaningful improvement in alopecia areata treatment.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research Long-term detection of methyltestosterone (ab-) use by a yeast transactivation system
A yeast-based test can detect the steroid methyltestosterone in urine longer than traditional methods.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Neuroactive steroids induce changes in fetal sheep behavior during normoxic and asphyxic states
Neurosteroids help protect fetal brains from asphyxia damage.
research Beyond the usual: a case of acrodermatitis enteropathica clinically resembling erythrokeratoderma variabilis
Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
research Action of Thioglycolic Acid and L-Cysteine to Disulfide Cross-Links in Hair Fibers during Permanent Waving Treatment
Thioglycolic acid and L-cysteine change hair structure differently during perms, affecting hair strength and curling efficiency.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
research Anaplasmosis concurrent with copper deficiency in a Salem Black kid
The young goat had anaplasmosis and copper deficiency.
research Fever, Maculopapular Rash and Severe Aphthous Stomatitis in a Renal Transplant Patient
The patient improved after antiviral treatment for a viral infection.
research Uric Acid in a Male’s Life
High uric acid can cause health issues, so managing it with lifestyle changes is important.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Satoyoshi Syndrome: A Cause of Alopecia Universalis in Association with Neurologic and Bony Abnormalities
Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
research Systemic lupus erythematosus presenting with bullous lesions, cutaneous vasculitis and laryngeal ulcerations-a rare association
A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
research Uncombable hair in a case of Zellweger syndrome – A new association
Uncombable hair syndrome is linked to Zellweger syndrome.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research PD02-05 SRD5A2 EXPRESSION IS A PREDICTOR OF RESPONSE TO FINASTERIDE IN THE MTOPS TRIAL
Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.
research Efficacy of Clinical and Pathogenetic Treatment of Patients with Alopecia Areata Associated with Metabolic Syndrome
Combining medication for dyslipidemia and insulin resistance with basic therapy improves outcomes for alopecia areata with metabolic syndrome.
research UHPLC-Q-Orbitrap HRMS-based Metabolomics and In Silico Studies on 5-α-Reductase, JAK1, JAK2, and JAK3 of <i>Albizia saponaria</i> L.: Application to Alopecia
Albizia saponaria bark extract may help treat hair loss.
research Effectiveness of Abrocitinib in Adolescent Alopecia Areata: A Prospective Observational Pilot Study
Abrocitinib significantly improved hair regrowth in adolescents with alopecia areata without serious safety issues.
research A multicenter evaluation of 10% sulfacetamide sodium in a 10% urea vehicle scalp treatment lotion and a 10% urea deep cleansing antibacterial shampoo for the treatment of seborrheic dermatitis of the scalp
The lotion and shampoo effectively treated scalp seborrheic dermatitis.