research Transcriptional Control of Epidermal Stem Cells
Certain transcription factors are key in controlling skin stem cell behavior and could impact future treatments for skin repair and hair loss.
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research REV7: a small but mighty regulator of genome maintenance and cancer development
REV7 is crucial for genome stability and cancer treatment, making it a potential target for therapy.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Acne as a chronic systemic disease
Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.
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 Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Molecular Genetics of Human Hair Diseases
research Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Dissecting the genetic variations associated with response to first-line chemotherapy in patients with small cell lung cancer: a retrospective cohort study
Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.
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 molecular basis of human keratin disorders
research Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia
research Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Developing Patient-Derived 3D-Bioprinting models of pancreatic cancer
3D-bioprinting models of pancreatic cancer could help personalize treatments but need more testing.
research Exploring Hirsutism: Epidemiology, Associated Endocrinal Abnormalities, and Societal Challenges in GCC—A Narrative Review
Hirsutism in GCC countries is influenced by genetics, obesity, and lifestyle, with cultural stigma delaying treatment, highlighting the need for tailored health strategies.
research Modeling animal genomics in mice: An authentic approach for the functional interrogation of evolutionarily and agriculturally critical variants
Mouse models are essential for studying and improving genetic traits in agriculture.
research Revolutionary Approaches to Hair Regrowth: Follicle Neogenesis, Wnt/ß-Catenin Signaling, and Emerging Therapies
New hair regrowth therapies show promise but need more research.
research Evolution of long scalp hair in humans
Long scalp hair evolved for cooling and social signaling.
research Integration Analysis of Transcriptome Sequencing and Whole-Genome Resequencing Reveal Wool Quality-Associated Key Genes in Zhexi Angora Rabbits
Key genes and pathways improve wool quality in Zhexi Angora rabbits.
research Sex-limited chromosomes and non-reproductive traits
Sex-limited chromosomes can affect traits not related to reproduction.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer
Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
research Intraethnic variation in steroid-5-alpha-reductase polymorphisms in prostate cancer patients: a potential factor implicated in 5-alpha-reductase inhibitor treatment
Genetic differences within ethnic groups may affect prostate cancer treatment effectiveness.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
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 Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
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 Identification of Transcripts Commonly Expressed in Both Hematopoietic and Germ-Line Stem Cells
Seven genes are highly expressed in both germ-line and hematopoietic stem cells.