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870-900 / 1000+ resultsresearch Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Congenital triangular alopecia: A close mimicker of alopecia areata
CTA is often mistaken for AA but doesn't respond to steroids and may require hair transplantation.
research KATP Channel Openers Inhibit Lymphatic Contractions and Lymph Flow as a Possible Mechanism of Peripheral Edema
KATP channel openers may cause peripheral edema by reducing lymphatic contractions and flow.
research Abstract 10845: Spontaneous Coronary Artery Dissection as the Primary Presentation of Ana-Negative Lupus
SCAD can indicate ANA-negative lupus, especially in women with unusual symptoms.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Eruptive vellus hair cyst syndrome or exuberant atypical keratosis pilaris?
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
A gene mutation causes curly hair and hair loss in rats.
research Serious complication of low-dose oral minoxidil for hair loss
Low-dose oral minoxidil can cause serious heart complications.
research Androgenetic alopecia and risk of coronary artery disease
Balding people may have higher heart disease risk.
research Involvement of RIPK1 in Alopecia Areata
RIPK1 inhibitors might help prevent alopecia areata.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research Identification of the Keratin-Associated Protein 22-2 Gene in the Capra hircus and Association of Its Variation with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
research Application and Challenges of Chimeric Antigen Receptor T Cell Therapy in Systemic Rheumatic Diseases and Autoimmune Disorders
CAR-T cell therapy shows promise for treating autoimmune disorders but faces challenges like complex manufacturing and limited tissue penetration.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Androgenetic alopecia is associated with increased arterial stiffness in asymptomatic young adults
Young adults with hair loss face higher risk of stiff arteries.
research Fibroblast Growth Factor-9 Enhances M2 Macrophage Differentiation and Attenuates Adverse Cardiac Remodeling in the Infarcted Diabetic Heart
Fibroblast Growth Factor-9 (FGF-9) can help improve heart function in diabetic mice after a heart attack by reducing inflammation and harmful changes to the heart's structure.
research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma
A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research Androgen receptor gene polymorphism and polycystic ovary syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research A case of myasthenia gravis following alopecia areata
A man developed myasthenia gravis after alopecia areata, and treatment improved his symptoms and stopped hair loss.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research The relation between the severity of androgenetic alopecia and cardiovascular atherosclerosis measured via carotid intima-media thickness and the syntax score
Severe hair loss (androgenetic alopecia) is linked to higher risk of heart disease (cardiovascular atherosclerosis).