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.
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research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research THE PATTERN OF SILVER-RUSSELL SYNDROME: OWN OBSERVATION
A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26
Hair loss gene found on chromosome 3q26.
research The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets?
The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Pharmacogenetic analysis of human steroid 5α reductase type II: comparison of finasteride and dutasteride
Dutasteride is more efficient than finasteride, but individual results vary.
research 5α‐reductase inhibitors: Evaluation of their potential confounding effect on GC‐C‐IRMS doping analysis
5α-reductase inhibitors can interfere with doping tests by masking banned substances.
research The Majority of Multipotent Epidermal Stem Cells Do Not Protect Their Genome by Asymmetrical Chromosome Segregation
Most hair follicle stem cells do not protect their DNA by dividing it unevenly.
research Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness
Researchers found 63 genes linked to male-pattern baldness, which could help in understanding its biology and developing new treatments.
research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Association analysis of oestrogen receptor beta gene ( ESR2 ) polymorphisms with female pattern hair loss
ESR2 gene variations may be linked to female pattern hair loss.
research Transcriptomic analysis of human skin wound healing and rejuvenation following ablative fractional laser treatment
Ablative fractional laser treatment rejuvenates skin by altering gene expression and promoting wound healing and tissue regeneration.
research Integrative Analysis of Methylome and Transcriptome Reveals the Regulatory Mechanisms of Hair Follicle Morphogenesis in Cashmere Goat
DNA methylation and long non-coding RNAs are key in controlling hair growth in Cashmere goats.
research Proteomic analysis of balding and non-balding mesenchyme-derived dermal papilla cells from androgenetic alopecia patients using on-line two-dimensional reversed phase-reversed phase LC–MS/MS
Found different proteins in balding and non-balding cells, giving insight into hair loss causes.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Comparative analysis of stemness between dermal papilla cells and human dermalstem/progenitor cells
Human dermal stem/progenitor cells can divide and differentiate more than hair follicle dermal papilla cells.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 gene is up-regulated in keloid patients, suggesting potential targets for treatment.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Critical Analysis on Characterization, Systemic Effect, and Therapeutic Potential of Beta-Sitosterol: A Plant-Derived Orphan Phytosterol
Beta-sitosterol has potential health benefits but needs more research to fully understand its effects and improve its use in treatments.
research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle
Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
research Intraovarian vascular enhancement via stromal injection of platelet-derived growth factors: Exploring subsequent oocyte chromosomal status and in vitro fertilization outcomes
Injecting platelet-derived growth factors into ovaries may improve IVF outcomes by enhancing egg quality and embryo health.