research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
Search
for
Sort by
Research
750-780 / 1000+ resultsresearch Molecular Aspects of Polycystic Ovarian Syndrome in Female Population in Karnataka at the Southwestern Region of India
PCOS in Karnataka is influenced by genetics, lifestyle, obesity, and diabetes.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Acquired Progressive Kinking of the Hair: A Narrative Review of the Androgen‐Dependent Phenotype
APKH in young males may signal early hair loss and needs early attention.
research The coenzyme A precursor pantethine enhances antitumor immunity in sarcoma
Pantethine may boost the immune system's ability to fight sarcoma.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Zinc and Growth with Picky Eating in a Jordan Pediatric Clinic: An Observational Study
Picky eating in children is linked to lower weight, hemoglobin, vitamin D, and zinc levels.
research PAK4 signaling in health and disease: defining the PAK4–CREB axis
PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research CPK1 activates CNGCs through phosphorylation for Ca2+ signaling to promote root hair growth in Arabidopsis
CPK1 helps root hair growth in Arabidopsis by activating channels for calcium signaling.
research Nonclassic Congenital Adrenal Hyperplasia
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research PLA2R1 Overexpression Causes Podocyte Injury by Inhibiting the Cell Cycle: A Clinical Cross-Sectional Investigation and Cellular Study
PLA2R1 overexpression harms kidney cells by stopping their growth cycle.
research Forensic DNA phenotyping: the need for proportionate regulation and judicial clarity in law enforcement
Unified regulations and ethical guidelines are needed for fair use of forensic DNA phenotyping.
research Alymphoid cystic thymic dysgenesis - FOXN1 gene mutation: a rare case report of two siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Drug-induced postinfantile giant cell hepatitis
Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
research Hepatic Adenoma in an Adolescent With Elevated Androgen Levels
A teenage girl with high androgen levels and PCOS developed a rare liver tumor, suggesting a possible link between high androgens and the tumor's growth.
research L’étude PCPT
research Atypical Protein Kinase C Isoform, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence
aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
research Evaluation of Premature Pubarche Cases: A Single CenterExperience
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
research Ketoconazole-p Aminobenzoic Cocrystal Exhibits a Potent Anti-inflammatory Effect on the Skin of BALBc Mice
The new cocrystal KET-PABA is a more effective and safe anti-inflammatory treatment for skin conditions in mice.
research Unusual Dermatologic Findings in an Extremely Low Birthweight Infant: The Genetic Diagnosis
An extremely low-birthweight infant had a rare genetic skin disease and died despite treatment.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Monilethrix
A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
research Metabolomic biomarkers in women with polycystic ovary syndrome: a pilot study
Certain metabolites are lower in women with PCOS and could be potential markers for the condition.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Tyrosine kinase inhibition and grey hair
Imatinib can repigment grey hair, while SU11428 can cause temporary hair depigmentation.
research Sodium Valproate-Induced Hyperpigmentation
Sodium valproate can rarely cause skin darkening, which may improve after stopping the drug.