research The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development
Fgfr2b helps maintain healthy skin and prevent cancer.
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150-180 / 1000+ resultsresearch Glibenclamide inhibits cell growth by inducing G0/G1 arrest in the human breast cancer cell line MDA-MB-231
Glibenclamide slows breast cancer cell growth by stopping cell division.
research 1342 Spatial transcriptome profiling reveals TGFβ-2 in hair follicle progenitor cells is a potential driver of androgenetic alopecia
TGFβ-2 may cause hair loss in androgenetic alopecia.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research Transglutaminase-3, an esophageal cancer-related gene
Transglutaminase-3 is often reduced in esophageal cancer.
research Sacituzumab Tirumotecan Across Gynecologic Malignancies: One Target, Multiple Diseases
Sacituzumab Tirumotecan shows promise in treating gynecologic cancers with manageable side effects.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Increased proliferation of epidermal gamma delta T cells and expression of the transmembrane protein, BST2, in Alopecia areata
BST2 protein and certain T cells increase in early alopecia areata.
research PC-SPES Studies Promising, But Manufacturer Shuts Down
Promising cancer treatments were found, but the manufacturer closed.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome
The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
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 A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research A slow-cycling LGR5 tumour population mediates basal cell carcinoma relapse after therapy
A small group of slow-growing cells causes basal cell carcinoma to return after treatment.
research Small cell lung cancer: Results of a phase II study of 1,2,4 triglycidylurazol
The drug TGU was ineffective against small cell lung cancer and caused significant bone marrow suppression.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research SAT-080 An Atypical Adenoma Presenting with Hyperandrogenism: A Rare Case Presentation on a Pituitary Germ Cell Tumor
A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study
Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research AB0163 ANTI-KU ANTIBODIES: MUCH MORE THAN SCLEROMYOSITIS
Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis
Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
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.