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.
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420-450 / 1000+ resultsresearch Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research A Thallium-Based Screening Procedure to Identify Molecules That Modulate the Activity of Ca2+-Activated Monovalent Cation-Selective Channels
The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Cyproterone acetate and risk of meningioma: a nationwide cohort study
Taking high doses of Cyproterone acetate significantly increases the risk of meningioma in females.
research OsPHR2 Is Involved in Phosphate-Starvation Signaling and Excessive Phosphate Accumulation in Shoots of Plants
OsPHR2 gene causes excessive phosphate in rice shoots, affecting plant growth and root development.
research Alk1 acts in non-endothelial VE-cadherin+ perineurial cells to maintain nerve branching during hair homeostasis
Alk1 in specific cells is crucial for proper nerve branching and hair function.
research Sorafenib-induced eruption resembling pityriasis rubra pilaris
A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Increased frequency of the DI genotype of the angiotensin-I converting enzyme and association of the II genotype with insulin resistance in polycystic ovary syndrome
The study suggests certain ACE gene variations are more common in women with PCOS and may be linked to increased insulin resistance.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation
NIPP1 is important for healthy skin and could help treat skin inflammation.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research L’étude PCPT
research America - A Diversity of Life Styles.
The drug showed promise in treating renal cell carcinoma with manageable side effects.
research Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways
Similar treatments might work for different types of scarring hair loss.
research 267 Single- and multiple-ascending dose studies of DS-2325a, a KLK5 inhibitor for the treatment of Netherton syndrome
DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
research Defective Expression of the Gap Junction Protein Pannexin-1 Channel Contributes to the Formation of PCOS-Realted Androgenetic Alopecia
Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
research Alkaline Phosphatase–Regulated C–C Motif Chemokine Ligand 5 (CCL5) Functions as a Critical Mediator of Hair Follicle Neogenesis
research Comparison of Activities Dependent on Glutathione S-Transferase and Cytochrome P-450 IA1 in Cultured Keratinocytes and Reconstructed Epidermal Models
Reconstructed skin models are useful for studying how skin processes certain chemicals.
research Therapeutic Effect of Platelet-Rich Plasma Improves Bladder Overactivity in the Pathogenesis of Ketamine-Induced Ulcerative Cystitis in a Rat Model
Platelet-rich plasma improves bladder function and reduces overactivity in ketamine-induced bladder issues.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research CRABP1 Enhances the Proliferation of the Dermal Papilla Cells of Hu Sheep through the Wnt/β-catenin Pathway
CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin
research INNOVATIVE APPROACH TO CRC PREVENTION: THE ROLE OF LOW-PENETRATION GENES
Low-penetration genes might help personalize colorectal cancer prevention.
research 599 PPARg signaling modulation protects from hair follicle bulge stem cell damage and cyclophosphamide-induced hair follicle cytotoxicity
PPARγ signaling modulation can protect hair follicle stem cells from chemotherapy-induced damage.
research Are STK11 polymorphisms a predictor of the response to metformin in polycystic ovarian syndrome?
STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
research The protease corin regulates electrolyte homeostasis in eccrine sweat glands
Corin helps control salt and sweat release in sweat glands.