research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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900-930 / 1000+ resultsresearch Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Extracellular matrix sensing by FERONIA and Leucine‐Rich Repeat Extensins controls vacuolar expansion during cellular elongation in Arabidopsis thaliana
FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
research A small multigene hydroxyproline-O-galactosyltransferase family functions in arabinogalactan-protein glycosylation, growth and development in Arabidopsis
Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
research Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Management of primary cicatricial alopecias: options for treatment
There are many treatments for permanent hair loss disorders, but their effectiveness varies and there's no clear best option.
research Chrousos syndrome: from molecular pathogenesis to therapeutic management
The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
research Trichoblastoma with sebaceous and sweat gland differentiation
A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
research Cosmetics and Cosmeceutical Applications of Chitin, Chitosan and Their Derivatives
Chitin and chitosan are useful in cosmetics for oral care, haircare, and skincare, including UV protection and strength improvement.
research 3D-SeboSkin Model for Human ex vivo Studies of Hidradenitis Suppurativa/Acne Inversa
Scientists created a 3D skin model to study a chronic skin disease and test treatments.
research 196 The endocannabinoid tone regulates human sebocyte biology
The endocannabinoid system affects oil production and inflammation in skin cells.
research Cutaneous Androgen Metabolism: Basic Research and Clinical Perspectives
Creating stronger blockers for skin enzymes might lead to better treatment for conditions like acne and excessive hair growth.
research The E211 G>A Androgen Receptor Polymorphism Is Associated with a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research Overexpression of aldo-keto reductase 1C3 (AKR1C3) in LNCaP cells diverts androgen metabolism towards testosterone resulting in resistance to the 5α-reductase inhibitor finasteride
Too much AKR1C3 enzyme causes resistance to finasteride by increasing testosterone.
research Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research The hairless gene mutated in congenital hair loss disorders encodes a novel nuclear receptor corepressor
The mutated hairless gene causes hair loss by acting as a new type of corepressor affecting thyroid hormone receptors.
research Mast cell deficient and neurokinin-1 receptor knockout mice are protected from stress-induced hair growth inhibition
Certain mice without specific receptors or mast cells don't lose hair from stress.
research Stem cell quiescence acts as a tumour suppressor in squamous tumours
Inactive hair follicle stem cells help prevent skin cancer.
research A glutathione-dependent control of the indole butyric acid pathway supports Arabidopsis root system adaptation to phosphate deprivation
Glutathione helps Arabidopsis roots adapt to low phosphate by regulating a specific growth pathway.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research The Rotterdam Study: 2018 update on objectives, design and main results
The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
research Alopecia Areata
Different treatments for alopecia areata have varying success rates and side effects; intralesional steroids are most effective.
research Fatty acids and related lipid mediators in the regulation of cutaneous inflammation
Certain fats in the skin help control inflammation and health, and changing these fats through diet or supplements might treat skin inflammation.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Topical Minoxidil
Minoxidil promotes hair regrowth, but more research needed for effectiveness and response factors.