research DNMT1 targets SRD5A2 to induce mitochondrial homeostasis and EMT in urothelial cells of hypospadias
DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
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research Overexpression of hypoxia-inducible factor-1α in hidradenitis suppurativa: the link between deviated immunity and metabolism
Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
research Ultrasonic-assisted extraction and in-vitro antioxidant activity of polysaccharide from Hibiscus leaf
The study found an efficient method to extract antioxidants from Hibiscus leaves.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research Case 1: Clitoromegaly, Oligomenorrhea, and Hirsutism in a 17-year-old Transgender Male
Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
research Evaluation of insulin resistance in idiopathic hirsutism compared with polycystic ovary syndrome patients and healthy individuals
Insulin resistance is not more common in idiopathic hirsutism patients than in healthy individuals.
research Association of society of dermatology hospitalist institutions with improved outcomes in Medicare beneficiaries hospitalized for skin disease
Patients at dermatology specialist hospitals had lower death and readmission rates but higher treatment costs.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Evaluation of the rodent Hershberger assay using three reference endocrine disrupters (androgen and antiandrogens)
The assay effectively detects hormonal activity of certain chemicals.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research The Clinical Center’s Blood Glucose Management Service
The Blood Glucose Management Service improved patient safety and outcomes in managing blood sugar in hospitalized patients.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Male pattern hair loss - rh79g
research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Seventy‐MHz Ultrasound Detection of Early Signs Linked to the Severity, Patterns of Keratin Fragmentation, and Mechanisms of Generation of Collections and Tunnels in Hidradenitis Suppurativa
Ultrasound can help detect early signs and severity of hidradenitis suppurativa.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Update on hidradenitis suppurativa: connecting the tracts
The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings
Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research The Follicular Skin Microbiome in Patients With Hidradenitis Suppurativa and Healthy Controls
Patients with hidradenitis suppurativa have a different skin microbiome compared to healthy people.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
research Successful treatment of palmoplantar pustular psoriasis with brodalumab
Brodalumab effectively treated a man's severe hand and foot psoriasis.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medications and surgery.