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.
Search
for
Sort by
Research
840-870 / 1000+ results research A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3
A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Leucocytoclastic vasculitis as onset symptom of ulcerative colitis
A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
research Enzalutamide, a prostate cancer therapeutic, downregulates TMPRSS2 in lung and reduces cellular entry of SARS-CoV-2
Enzalutamide, a prostate cancer drug, may help prevent COVID-19 by blocking the virus from entering lung cells.
research Clinical Diagnosis of COVID-19: a Prompt, Feasible, Costless, and Highly Sensitive Diagnostic Tool for COVID-19 Based on a 1,757-Patient Cohort (The AndroCoV Clinical Scoring for COVID-19 Diagnosis).
The AndroCoV Clinical Scoring is an accurate, easy, and free way to diagnose COVID-19 without a lab test.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research Editor’s picks January 2021
PrEP doesn't increase STI risk in high-risk men, anti-androgen drugs may lower ICU admission for male COVID-19 patients, a 3-point injection is better for crow's feet, and the 'Geriatric-8' tool could help assess frailty in older skin cancer patients.
research T helper 17 cell/regulatory T-cell imbalance in hidradenitis suppurativa/acne inversa: the link to hair follicle dissection, obesity, smoking and autoimmune comorbidities
An imbalance between certain immune cells is linked to a chronic skin condition and may be influenced by obesity, smoking, and autoimmune issues.
research Enanthem in Patients With COVID-19 and Skin Rash
Minoxidil can improve hair growth in some patients with woolly hair due to LIPH variants, with varying responses and mild side effects.
research Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
research Generating mouse models of degenerative diseases using Cre/lox-mediated in vivo mosaic cell ablation
The study created a mouse model to mimic degenerative diseases for testing tissue repair and new therapies.
research Mutation des menschlichen hairless -Gens bei Atrichia universalis
A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Clinical study of twenty-nail dystrophy in Korea
The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research 264 CCR5 blockade shows prevention of alopecia areata development as well as improvement of alopecia areata
Blocking CCR5 can prevent and improve hair loss in alopecia areata.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Connexin 43 expression in the testes during postnatal development of finasteride-treated male rat offspring
Finasteride treatment changes Cx43 in rat testes, possibly causing fertility issues.
research Targeting host cell proteases as a potential treatment strategy to limit the spread of SARS‐CoV‐2 in the respiratory tract
Blocking enzymes that help the virus enter cells could be a promising way to treat COVID-19.
research KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia
A faulty KLHL24 gene leads to hair loss by damaging hair follicle stem cells.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
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 Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research The polygenic architecture of hidradenitis suppurativa reveals signaling mechanisms that implicate epithelial remodeling
Blocking CXCR4 may help treat hidradenitis suppurativa.
research Mycobacterial 65,000 MW heat-shock protein shares a carboxy-terminal epitope with human epidermal cytokeratin 1/2.
A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
research In vivo CD44‐CD49d complex formation in autoimmune disease has consequences on T cell activation and apoptosis resistance
The CD44-CD49d complex boosts T cell activation and survival in autoimmune disease.
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.