research Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
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research 976 Knockout of mTOR/Akt inhibitor REDD1 results in hair cycle-independent dermal adipose expansion by promoting adipocyte differentiation
Removing REDD1 in mice increases skin fat by making fat cells larger and more numerous.
research BJD Editor's Choice
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
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 Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Forensic DNA Phenotyping: Male Pattern Baldness: Traditional Review
DNA markers can help predict male pattern baldness, useful in criminal and missing person cases.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Association of DNA damage with vitamin D and hair heavy metals of obese women
Adequate vitamin D might lower, and high hair chromium might increase DNA damage in obese women.
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 EP-2271: The role of mitochondria in the non-targeted effect of ionizing radiation
Mitochondria may influence how cells respond to radiation, affecting nearby non-irradiated cells.
research Fail-tests of DNA methylation clocks, and development of a noise barometer for measuring epigenetic pressure of aging and disease
Elastic Net DNA methylation clocks are inaccurate for predicting age and health status; a "noise barometer" may better indicate aging and disease.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research 0843 N6-methyladenosine RNA modification promotes keratinocyte proliferation and cutaneous wound repair through regulation of MTOR stability
Increasing m6A levels can improve skin cell growth and wound healing.
research Prediction of the Development of Depression in Patients with Autoimmune Thyroiditis and Hypothyroidism
BDNF, TSH, fT4, anti-TPO, and 25-OH Vitamin D levels predict depression risk in patients with autoimmune thyroiditis and hypothyroidism.
research 1433 Epithelially derived, mitochondrial MPZL3 negatively regulates murine and human hair follicle cycling
A protein called MPZL3 in mitochondria slows down hair growth and could be a target for treating hair growth disorders.
research Table 1_Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study.docx
SQSTM1 is linked to increased risk of alopecia areata.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Primary TSC2-/meth Cells Induce Follicular Neogenesis in an Innovative TSC Mouse Model
TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Somatic mutations distinguish melanocyte subpopulations in human skin
Hair follicles protect melanocytes from sun damage, helping them replenish skin.
research Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA
Humans have ancient DNA from Neanderthals and other lineages in their chromosomes, affecting traits and evolution.
research Muir-torre syndrome in two families in Leicestershire, United Kingdom
Recognizing minor skin lesions can help identify serious cancer syndromes.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.