research scMC learns biological variation through the alignment of multiple single-cell genomics datasets
scMC effectively separates biological signals from technical noise in single-cell genomics data.
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690-720 / 1000+ resultsresearch Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Adaptive 3D Self‐Assembly of Colorectal Cancer Cells With Unchanged Tumor Phenotype and Drug Sensitivity
Colorectal cancer cells can adapt without losing their traits or drug sensitivity.
research Double mutation of claudin‐1 and claudin‐3 causes alopecia in infant mice
Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
research Effect of CUX1 on the Proliferation of Hu Sheep Dermal Papilla Cells and on the Wnt/β-Catenin Signaling Pathway
CUX1 boosts sheep hair cell growth and affects curl patterns.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research Author response: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
research Lentiviral Vector-Mediated Gene Transfer to Human Hair Follicles
research MON-323 Metastatic Adrenocortical Carcinoma Presenting with Mixed Cushing's and Virilization Syndrome along with Bilateral Pulmonary Emboli
Rapid virilization should be checked for possible ovarian or adrenal cancer.
research Multiple Concurrent Pilonidal Sinuses: Case report and Literature review
Multiple pilonidal sinuses can be successfully treated with a mix of surgery and conservative care.
research Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
research Decision letter: ETS family transcriptional regulators drive chromatin dynamics and malignancy in squamous cell carcinomas
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
research ACE1 rs1799752 polymorphism is not associated with long-COVID symptomatology in previously hospitalized COVID-19 survivors
The ACE1 gene variant doesn't affect long-COVID symptoms.
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research Epidermal Stem Cells Manipulated by pDNA-VEGF165/CYD-PEI Nanoparticles Loaded Gelatin/β-TCP Matrix as a Therapeutic Agent and Gene Delivery Vehicle for Wound Healing
The gelatin/β-TCP scaffold with nanoparticles improves wound healing and skin regeneration.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses
Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Generation of Induced Pluripotent Stem Cells from Hair Follicle Bulge Neural Crest Stem Cells
Hair follicle stem cells need all reprogramming factors to become pluripotent.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Zinc deficiency or genetic mutations?—A case report of hair heterochromia in the context of MC1R genetic mutations
A boy's hair turned red because of genetic mutations, not lack of zinc.
research Identification of key modules and hub genes involved in regulating the feather follicle development of Wannan chickens using WGCNA
Certain genes are crucial for feather development in Wannan chickens.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.