Search

for
Search:

Sort by

Research

960-990 / 1000+ results

research Use of Single‐Cell Data and scPagwas Analysis to Identify T Cell Subsets and Construct a Prognostic Model for Clear Cell Renal Cell Carcinoma

January 2026 in “Human Mutation”

T cell subsets are crucial in kidney cancer, and a new model predicts patient outcomes using key genes.

research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas

31 citations , October 2019 in “Genes & Diseases”

Basal cell carcinomas and squamous cell carcinomas have different gene activity patterns, suggesting unique treatment approaches.

research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome

January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)”

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

research Cases Report the Cronkhite-Canada Syndrome

6 citations , December 2015 in “Medicine”

Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.

research When one size does not fit all: Reconsidering PCOS etiology, diagnosis, clinical subgroups, and subgroup-specific treatments

January 2024 in “Endocrine and metabolic science”

Different types of PCOS need specific diagnosis methods and treatments.

Pallister-Killian Syndrome: A Case Study

research Pallister-Killian Syndrome

November 2024 in “NeoReviews”

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

research Aguas residuales urbanas

9 citations , January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros”

PRC2 is not essential for hair follicle stem cell maintenance or hair growth.

research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia

August 2024 in “American Journal of Medical Genetics Part A”

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra-rare disorder characterized by liver dysfunction, hypotonia, developmental delay, coarse hair, and dysmorphic features. This report describes the fifth and sixth cases of THNS from Saudi Arabia, both presenting with these symptoms. Genetic analysis revealed pathogenic variants in the CCDC47 gene: a homozygous variant in Case 1 and two heterozygous variants in Case 2, confirmed to be in trans phase through parental testing. These findings contribute to a stronger gene-disease association and help clarify the clinical phenotype and mutational spectrum of THNS.

research Tumor suppressor identity can contribute to heterogeneity of phenotype in hair follicle stem cell‐induced squamous cell carcinoma

8 citations , April 2016 in “Experimental Dermatology”

The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.

research Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus

3 citations , October 2020 in “UNC Libraries”

The new criteria for classifying lupus are more accurate and comprehensive.

Benzo[c]quinolizin-3-ones Theoretical Investigation: SAR Analysis and Application to Untested Compounds

research Benzo[c]quinolizin-3-ones Theoretical Investigation: SAR Analysis and Application to Nontested Compounds

6 citations , August 2004 in “Journal of Chemical Information and Computer Sciences”

The research found a link between certain molecular features and the biological activity of BC3, which can help identify or create new active compounds.

research 2-Substituted 4-(Thio)chromenone 6-O-Sulfamates: Potent Inhibitors of Human Steroid Sulfatase

111 citations , August 2002 in “Journal of Medicinal Chemistry”

New compounds were made that block an enzyme linked to breast cancer better than existing treatments.

research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

October 2024 in “Journal of the Endocrine Society”

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

research Purification of Porcine Hair Keratin Subunits and Their Immobilization for Use as Cell Culture Substrates

3 citations , September 2013 in “Bioscience Biotechnology and Biochemistry”

Type II porcine hair keratin supports cell growth but hinders cell differentiation.

The Utility of the Classification Tools in National Institute of Health and Clinical Excellence's Clinical Knowledge Summaries for Primary Care

research The utility of the classification tools in National Institute of Health and Clinical Excellence’s Clinical Knowledge Summaries for primary care

September 2023 in “Family practice”

Nearly half of the classification tools in the National Institute of Health and Clinical Excellence's Clinical Knowledge Summaries might not effectively guide management for general practitioners.

research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)

21 citations , January 2018 in “Anticancer Research”

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells

research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K_ATPChannel Mutations in Intact Cells

1 citations , August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics”

Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.

Catalytic-Dependent and -Independent Activities of Polycomb Repressive Complex 1 Differentially Regulate Skin Stem Cell Specification

research 864 Catalytic-dependent and -independent activities of Polycomb repressive complex 1 differentially regulate skin stem cell specification

April 2017 in “Journal of Investigative Dermatology”

PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.

research NonClassic Congenital Adrenal Hyperplasia

59 citations , January 2010 in “International Journal of Pediatric Endocrinology”

NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

research Synthesis of porcine pCLCA2 protein during late differentiation of keratinocytes of epidermis and hair follicle inner root sheath

13 citations , September 2012 in “Cell & tissue research/Cell and tissue research”

pCLCA2 protein may help maintain skin structure and function.

research Congenital atrichia and hypotrichosis

11 citations , May 2011 in “World Journal of Pediatrics”

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

research Synthesis and Pharmacological Evaluation of New Progesterone Esters as 5.ALPHA.-Reductase Inhibitors

13 citations , January 2005 in “Chemical and Pharmaceutical Bulletin”

Smaller substituents at C-17 enhance the inhibitory activity of progesterone derivatives on 5alpha-reductase.

research SLE classification criteria item relationships: implications on SLE as a disease entity

August 2025 in “Annals of the Rheumatic Diseases”

SLE is likely one disease with various symptoms, not multiple distinct diseases.

Machine Learning-Based Steroid Metabolome Analysis in Women With Polycystic Ovary Syndrome Reveals Three Distinct Androgen Excess Subtypes With Different Metabolic Risk Profiles

research OR20-01 Machine Learning-based Steroid Metabolome Analysis In Women With Polycystic Ovary Syndrome Reveals Three Distinct Androgen Excess Subtypes With Different Metabolic Risk Profiles.

October 2023 in “Journal of the Endocrine Society”

Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.

research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma

June 2023 in “British Journal of Dermatology”

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

research The Bis(1,2,3,4-tetrahydroisoquinoline) Alkaloids Cepharanthine and Berbamine Are Ligands of SK Channels

6 citations , January 2024 in “ACS Medicinal Chemistry Letters”

Cepharanthine and berbamine may affect SK channels, influencing their therapeutic effects.

research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers

July 2025 in “Journal of Investigative Dermatology”

Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.

Enrichment and Characterization of Human Dermal Stem/Progenitor Cells by Intracellular Granularity

← Previous page Next page →