research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
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450-480 / 1000+ resultsresearch Mitochondrial dysfunction in an animal model of diabetic neuropathy is associated with a reduction of neurosteroid synthesis.
Diabetic neuropathy in mice is linked to poor mitochondria function and lower brain hormone production.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
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 Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research Structural characterization and dissolution profile of mycophenolic acid cocrystals
The MPA-ISO cocrystal improved solubility and dissolution rate, while the others did not.
research Methotrexate-associated lymphoproliferative disorder: Sequential development of angioimmunoblastic T-cell lymphoma-like lymphoproliferation in the lymph nodes and diffuse large B-cell lymphoma in the skin in the same patient
Stopping methotrexate might reverse lymphoma-like conditions in some patients.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Scleromyxedema with neurologic involvement: Therapy with intravenous immunoglobulin
Umbilical cord blood transplantation improved the boy's symptoms despite complications.
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Microphthalmic-associated transcription factor integrates melanocyte biology and melanoma progression.
Mitf plays a key role in melanoma progression and is linked to disease stage.
research Direct hair growth promoting effects of mycophenolic acid
Mycophenolic acid may help hair grow by activating pathways important for hair growth.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Do Dietary Levels of Pantothenic Acid Regulate Its Intestinal Uptake in Mice?
Mice's intestinal uptake of pantothenic acid is not affected by dietary levels.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
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 Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
research The emerging roles of N6-methyladenosine (m6A) deregulation in polycystic ovary syndrome
m6A deregulation plays a key role in PCOS and could lead to new treatments.
research Mitochondrial Complex I Activity Suppresses Inflammation and Enhances Bone Resorption by Shifting Macrophage-Osteoclast Polarization
Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
research Progressive Alopecia Reveals Decreasing Stem Cell Activation Probability during Aging of Mice with Epidermal Deletion of DNA Methyltransferase 1
Aging reduces stem cell activation, leading to hair loss in mice lacking a specific enzyme.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Genetically Altered Expression of Spermidine/Spermine N1-Acetyltransferase Affects Fat Metabolism in Mice via Acetyl-CoA
Altering SSAT affects fat metabolism and body fat in mice.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research KASUS RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA-MITIS YANG TERDIAGNOSIS PADA SAAT LANJUT USIA
Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings
Two siblings with a rare type of rickets and hair loss had low vitamin D levels, which is not typical for their condition.
research Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease
Histone demethylases can change gene expression and may be linked to diseases like cancer.