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.
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630-660 / 1000+ results research METABOLIC SYNDROME IN PATIENTS WITH ANDROGENETIC ALOPECIA IN A TERTIARY CARE HOSPITAL
Early screening for Metabolic Syndrome in hair loss patients can help prevent heart disease.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Manganese Ethylene Bis(Maneb)-Induced Degeneration of Hair Follicle Epithelia in the Dosal Skin of WBN/ILA-Ht Rats.
Maneb causes delayed hair follicle damage in rats.
research DNMT1-mediated methylation inhibits microRNA-214-3p and promotes hair follicle stem cell differentiate into adipogenic lineages
DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Disorders in Male Sexual Differentiation Due to 5α-Reductase-2 Deficiency
5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research 8 / Experimental induction of tenuazonic acid toxicity in mice model
Low levels of tenuazonic acid can severely damage vital organs.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Methotrexate for induction of remission in ulcerative colitis
Methotrexate is not proven effective for inducing remission in ulcerative colitis.
research Selenium status in Sudanese children with protein-calorie malnutrition.
Sudanese children with severe malnutrition have low selenium levels, which may affect their recovery.
research The acyl-CoA binding protein is required for normal epidermal barrier function in mice
ACBP is crucial for healthy skin in mice.
research Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD)
Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
research Transcriptome Analysis of Skin from SMP30/GNL Knockout Mice Reveals the Effect of Ascorbic Acid Deficiency on Skin and Hair
Vitamin C deficiency changes gene expression, affecting skin and hair health.
research The agouti mouse model: an epigenetic biosensor for nutritional and environmental alterations on the fetal epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research Delta‐6 desaturase knockout mouse illustrates previously undocumented pathology
Lack of certain fatty acids causes skin, immune, and fertility issues in mice.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research A Case of Azathioprine Induced Severe Myelosuppression and Alopecia Totalis in IgA Nephropathy
Azathioprine can cause severe blood issues and hair loss, needing careful monitoring and possible discontinuation.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research The mechanism of m6A methylation analysis of the transcriptome to regulate the diameter of Alpine Merino wool fiber
m6A methylation affects the thickness of Alpine Merino wool fibers.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research 1,25-dihydroxyvitamin D resistance, rickets, and alopecia
A genetic defect in vitamin D receptors causes severe rickets and hair loss in children, but some heal as they age.
research Laporan Kasus Acrodermatitis Enteropathica pada Anak 5 Tahun dengan Level Zink Serum Normal
Acrodermatitis enteropathica can occur even with normal zinc levels, and zinc supplements can improve symptoms.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Annals for Educators - 17 March 2020
Monitor methotrexate side effects, research cannabis treatments, and use mycophenolate mofetil for lupus nephritis.