research Abstract 2205: KRTAP 2-3 is a novel potential biomarker of cells in the polyaneuploid cancer cell (PACC) state to predict cancer recurrence
KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.
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240-270 / 1000+ results research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research A genetic test for androgenetic alopecia: polymorphisms in the androgen receptor gene provide a genetic screening test for androgenetic alopecia and earlier medical intervention
A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
research Test With Oral Administration of Clomiphene May Add to Differential Diagnosis of Severe Hyperandrogenism in Postmenopausal Women - A Case Report
Clomiphene testing can help find ovarian causes of high testosterone in postmenopausal women.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Unexpected Autocrine Role of Vascular Endothelial Growth Factor in Squamous Cell Carcinoma
VEGF helps squamous cell carcinoma grow in ways beyond just blood vessel formation.
research Role of Trichoscopy in diagnosing Genotrichosis—A Report of Two Cases
Trichoscopy is crucial for diagnosing rare genetic hair disorders.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Single-cell transcriptome analysis in ovarian steroid cell tumors-not otherwise specified
This study conducted single-cell RNA sequencing on a 41-year-old woman with ovarian steroid cell tumors-not otherwise specified (SCT-NOS) and hyperandrogenism, identifying seven cell types, including four KRT19⁺ steroidogenic cell subtypes, within the tumor microenvironment. The analysis revealed aberrant gene expression related to ovarian steroidogenesis and steroid biosynthesis pathways, aligning with hyperandrogenism pathobiology. Additionally, five immune cell types were identified, with tumor-associated macrophages and dendritic cells being predominant. The findings provide insights into the cellular heterogeneity and molecular mechanisms of ovarian SCT-NOS, enhancing understanding and encouraging further research into this rare tumor type.
research Detection of metastatic breast carcinoma cells in a bone marrow sample by flow cytometry: case report
Flow cytometry was effective in diagnosing metastatic breast cancer in a bone marrow sample.
research Androgenetic alopecia risk IDed with genetic test
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research FORENSIC DNA PHENOTYPING FOR CRIMINAL IDENTIFICATION
Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Contrast enhanced phototrichogram (CE-PTG): an improved non-invasive technique for measurement of scalp hair dynamics in androgenetic alopecia–validation study with histology after transverse sectioning of scalp biopsies.
CE-PTG is a better method for analyzing hair growth in androgenetic alopecia.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Characterization of a First Domain of Human High Glycine-Tyrosine and High Sulfur Keratin-associated Protein (KAP) Genes on Chromosome 21q22.1
Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
research Sperm extraction in nonmosaic Klinefelter syndrome patients: A case series and literature review of sperm extraction in Klinefelter syndrome patients
Younger Klinefelter Syndrome patients have a better chance of successful sperm extraction.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research Long-term renewal of hair follicles from clonogenic multipotent stem cells
Adult stem cells from rat whisker follicles can regenerate hair follicles and sebaceous glands.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research What’s Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses
Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.
research Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Health and fertility in World Health Organization group 2 anovulatory women
Women with PCOS may take longer to get pregnant but can have a normal family size, and should manage their overall health to reduce long-term health risks.
research VITAMIN D RESISTANT RICKETS WITH ALOPECIA: A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN D
A girl with rickets and hair loss was found to have a rare condition where her body didn't respond to vitamin D treatment.
research Induced Pluripotent Stem Cells from Human Hair Follicle Mesenchymal Stem Cells
Human hair follicle cells can be turned into stem cells similar to embryonic stem cells.
research Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.