research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
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750-780 / 1000+ results research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
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 Thionamide-Responsive Alopecia Areata in a 11 Year Girl
An 11-year-old girl's hair regrew after treating her thyroid condition with carbimazole.
research ACUTE ZINC DEPLETION SYNDROME DURING PARENTERAL HYPERALIMENTATION
A patient with zinc depletion improved after zinc supplementation during parenteral nutrition.
research Reversible hypopigmentation of hair secondary to Vitamin B12 deficiency
Vitamin B12 deficiency can cause reversible hair color loss in children.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Apparent Hyperandrogenemia Due to Immunoassay Interference Resolved by Liquid Chromatography–Tandem Mass Spectrometry
False high testosterone levels were corrected using a more accurate test.
research Promotion of Hair Growth by Applying Sulfur Amino Acids and Other Things to the Skin
Applying L-methionine and L-serine to the skin promotes the most hair growth.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Reduced serum vitamin B12 levels during oral cyproterone-acetate and ethinyl-oestradiol therapy in women with diffuse androgen-dependent alopecia
Taking cyproterone acetate and ethinyl oestradiol for hair loss can lower vitamin B12 levels in women.
research Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research Localised Skin Hyperpigmentation as a Presenting Symptom of Vitamin B12 Deficiency Complicating Chronic Atrophic Gastritis
Vitamin B12 deficiency can cause skin darkening and other symptoms, which improve with B12 supplements.
research Dissecting the Impact of α-MSH-MC1R-cAMP Signaling on UVA-Induced Stress in Fibroblasts - Implications for Regulation of Cutaneous Photoaging
The α-MSH-MC1R-cAMP pathway does not protect skin cells from UVA damage.
research Investigation of plasma thiol/disulfide balance in male patients with androgenetic alopecia
Thiol/disulfide balance is normal in male AGA patients but shifts towards oxidative stress with emotional stress and low vitamin D.
research SERUM-CONCENTRATIONS OF Dehydroepyandrosterone-sulfate IN MEN WITH ANDROGENETIC ALOPECIA
Men with male pattern baldness don't necessarily have high levels of Dehydroepyandrosterone-sulfate, and there's no link between its levels and the severity of hair loss.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Ugreelig hår
A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
research Zinc metabolism in lethal-milk mice
Lethal-milk mice produce zinc-deficient milk, causing health issues in pups unless supplemented with zinc.
research Alopecia Areata with Renal Dysgenesis
Alopecia areata may be linked to kidney issues, but more research is needed.
research Androgens Protect against Apolipoprotein E4-Induced Cognitive Deficits
Androgens can help prevent memory problems caused by apoE4.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Treatment of Female Androgenic Alopecia with Cimetidine
Cimetidine is not a first-choice treatment for female hair loss, and there's no consistently successful treatment for this condition in men or normal hormone level women.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research Association between angiotensin‐converting enzyme gene insertion deletion polymorphism and androgenetic alopecia susceptibility among Egyptian patients: A preliminary case‐controlled study
Certain gene variations may increase the risk of hair loss in Egyptians.