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540-570 / 1000+ resultsresearch 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 Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research A Unique Case of Isolated Dehydroepiandrosterone-Sulfate Secreting Adrenocortical Carcinoma: A Case Report with Review of the Literature
A woman was diagnosed with a rare adrenal gland cancer that did not show usual hormone-related symptoms.
research [ADAPTIVE REGULATORY MECHANISMS OF ALOPECIA AREATA].
Alopecia areata progression is linked to stress and hormone changes, suggesting new treatment targets.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research An Unusual “Side Effect” of an Acne Drug
Isotretinoin may increase the risk of high triglycerides and metabolic syndrome, especially in those genetically prone.
research Primary Involvement of NADPH Oxidase 4 in Hypoxia-Induced Generation of Reactive Oxygen Species in Adipose-Derived Stem Cells
NADPH oxidase 4 is key for stem cell activity and growth under low oxygen.
research Inhibition of Cholesterol Biosynthesis Modulates Epithelial-Mesenchymal Transition in Primary Cicatricial Alopecia Through TGFβ and Angiotensin Receptors
Blocking cholesterol production may help control hair loss in Primary Cicatricial Alopecia by affecting key regulators.
research Scalp Porokeratosis: Dermoscopy's Key Role in Unmasking a Hidden Condition
Porokeratosis should be considered for scalp lesions, with new treatments like topical cholesterol/lovastatin offering promise.
research Metabolic Teamwork in the Stem Cell Niche
Paneth cells and intestinal stem cells work together metabolically for stem cell function and regeneration.
research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research Occult fungal infection is the underlying pathogenic cause of atherogenesis
Hidden fungal infections might cause heart disease and clogged arteries.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Peripheral Arterial Disease: Diagnosis and Management
PAD is common but often missed, needing lifestyle changes and medication for better outcomes.
research Perceived Stigma Among Adults With Alopecia Areata in the United States
Alopecia areata causes significant stigma and emotional distress, with many affected individuals not receiving adequate support or treatment.
research Ichthyosis hystrix
A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
research Cutaneous manifestations of methylmalonic and propionic acidaemia: a description based on 38 cases
Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13 -Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Generation of an intestinal‐specific hephaestin knockout mouse
Knockout mice showed anemia and hair loss, suggesting other ways exist for iron absorption.
research No effects of statins on improvement of alopecia areata: a four year retrospective cohort study in a metropolitan area
Statins do not help improve alopecia areata.
research Exacerbation of alopecia areata: A possible complication of sodium tetradecyl sulphate foam sclerotherapy treatment for varicose veins
A woman's hair loss condition got worse after her varicose vein treatment with a specific foam.
research Effect of a transcriptional inactive or absent vitamin D receptor on beta-cell function and glucose homeostasis in mice
Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
research Image 1_Associations between ionomic profile and metabolic abnormalities in a murine model of sodium sulfide induced alopecia areata.tif
Targeting specific metabolic and ionic pathways may improve alopecia areata treatment.