research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
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810-840 / 1000+ results research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.
A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
research Epidermal expression of receptor for advanced glycation end products (RAGE) is related to inflammation and apoptosis in human skin
Skin RAGE levels are linked to inflammation and cell death.
research Finasteride Induces Epigenetic Alteration of TMPRss2 Gene Expression: A Potential role in Severe Acute Respiratory Syndrome-Corona Virus-2 Inhibition
Finasteride may help reduce COVID-19 infection by altering a key gene.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research EZH1 and EZH2 cogovern histone H3K27 trimethylation and are essential for hair follicle homeostasis and wound repair
EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
research SRD5A2 and emerging therapies in androgen-driven disorders
research Association of Androgen Receptor CAG Repeat Length with Polycystic Ovary Syndrome in an Iranian Female Population
CAG repeat length in the AR gene is not linked to PCOS risk in Iranian women.
research Evaluation of the predictive capacity of DNA variants associated with straight hair in Europeans
Certain DNA variants can predict straight hair in Europeans but are not highly specific.
research [Genetic dissection of retinoic acid function in epidermis physiology].
Retinoic acid affects skin and hair health by working with specific receptors, and its absence can lead to hair loss and skin changes.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Changes in the Expression of Smooth Muscle Cell–Related Genes in Human Dermal Sheath Cup Cells Associated with the Treatment Outcome of Autologous Cell–Based Therapy for Male and Female Pattern Hair Loss
Lower levels of certain genes in hair cells improve hair loss treatment outcomes.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Increased CRHR1 expression on monocytes from patients with AA enables a pro‐inflammatory response to corticotrophin‐releasing hormone
Higher CRHR1 levels in AA patients lead to increased inflammation.
research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits
The gene KAP22-1 affects wool yield and fiber shape in sheep.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research The dark and the bright sides of the transcription factor Nrf2 in skin protection and disease (Nrf2 and epidermal barrier function)
Nrf2 helps protect skin from damage but too much can cause skin problems.
research Investigating the role of notch ligands regulating epidermal stem cell differentiation
Jag2 is essential for proper skin cell differentiation and organization.
research SIRT 7 activates quiescent hair follicle stem cells to ensure hair growth in mice
SIRT7 protein is crucial for starting hair growth in mice.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research Serum interleukin-37 and its gene polymorphism (rs3811047) in Egyptian patients with alopecia areata
Higher IL-37 levels are linked to more severe alopecia areata, but the gene variation doesn't affect disease risk.
research Snail2: Estudios estructura-función y análisis in vivo de su papel en el desarrollo del folícullo piloso y la carcinogénesis química de la piel
Snail2 is crucial for hair growth and affects skin cancer development.
research A comprehensive investigation into the molecular mechanism responsible for selective androgen receptor (SARM) tissue-selectivity
SARMs work differently in tissues due to unique interactions and structures.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research 136 Physiological function of Krox20 (Egr2) in epithelial stem cells
Krox20 is crucial for hair growth and maintaining skin stem cells.
research Gene Expression in Rat Dermal Papilla Cells: Analysis of 2529 ESTs
Rat dermal papilla cells have unique genes crucial for hair growth.
research 376 Tsc2 disruption in mesenchymal progenitors regulates hair follicles and TGF beta signaling
Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.