research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
Search
for
Sort by
Research
570-600 / 1000+ results 
research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Skin changes in pediatric transplant patients
Pediatric transplant patients often experience unique skin changes mainly due to medication use.
research Genetic correlation by pedigree analysis in patients diagnosed with PCOS as per Rotterdam’s criteria
PCOS is likely inherited in families, increasing risk for first-degree relatives.
research Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research Permanent alopecia as a manifestation of chronic graft-versus-host disease of the scalp: clinical, dermoscopic and histopathological observations
Permanent hair loss after a stem cell transplant can be a sign of chronic immune system attack on the scalp.
research Hair regrowth in a patient with alopecia universalis and psoriasis vulgaris during deucravacitinib therapy
Deucravacitinib helped a man regrow hair significantly.
research Characters of KRT80 and its roles in neoplasms diseases
KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.
research Nilontinib induced keratosis pilaris atrophicans
Nilotinib can cause skin issues like red bumps and hair loss.
research A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.
CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
research Cellular activation pathways and interaction networks in vascularized composite allotransplantation
Understanding cellular interactions in VCA may lead to better treatments and reduce rejection.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research TYK2 Inhibition with Deucravacitinib Improves Clinical Outcomes and Resolves Interferon-Driven Inflammation in Lichen Planopilaris
Deucravacitinib improves symptoms and reduces inflammation in Lichen Planopilaris.
research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research Primary cicatricial alopecias
The document concludes that early diagnosis and treatment are crucial for managing rare hair loss disorders and that more research is needed to improve treatment strategies.
research Alopecia areata totalis bei 19-jähriger Patientin mit Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)
A 19-year-old with MRKHS developed complete hair loss, and treatment options were discussed.
research Vogt-Koyanagi-Harada Disease Diagnosed in a Black-Skinned Woman in Internal Medicine
A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
research [Skin manifestations in patients with renal chronic renal failure on regular hemodyalysis].
Patients on long-term hemodialysis often experience severe itching and various skin and nail problems.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Clinical Spectrum and Outcomes of Post-COVID Syndrome Among Adults in Rural Kerala: A Cohort Study
Post-COVID syndrome symptoms are common and overlap with general health issues.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Rapid hair depigmentation in patient treated with pazopanib
Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.