research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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540-570 / 1000+ resultsresearch Characterization of aberrant mTOR signaling pathway in U87MG glioblastoma cell line by quantitative phosphoproteomics
Inhibiting mTORC2 can reduce DNA repair and increase cancer cell death, suggesting potential for targeted brain cancer treatments.
research Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
research Author response: NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures
NuMA-microtubule interactions are crucial for proper skin structure and hair growth.
research RETRACTION: Causal Effects of Omega‐6 and LDL‐C on Androgenetic Alopecia: A Mendelian Randomization Study
research Monilethrix, a rare inherited hair shaft disorder in siblings
Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.
research P02 Accelerated ageing of hair follicles in androgenetic alopecia
Hair follicles in androgenetic alopecia age faster, especially in the front.
research Identifying causal genes in alopecia areata using integrative analysis of differential expression and Mendelian randomization
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
research Comparative effects of finasteride and minoxidil on the male reproductive organs: A systematic review of in vitro and in vivo evidence
Finasteride is more harmful to male reproductive health than minoxidil.
research Association between genetically predicted leukocyte telomere length and non-scarring alopecia: A two-sample Mendelian randomization study
Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
research Trias of keratosis pilaris, ulerythema ophryogenes and 18p monosomy: Zouboulis syndrome
Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research Androgen Action in the Ovary
Androgens are important for normal ovarian function and estrogen production, but may not be the main cause of follicle death.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Hair follicle dystrophy in a litter of domestic cats resembling lanceolate hair mutant mice
A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.
research Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases
Early-onset hair loss is linked to Parkinson's disease and decreased fertility.
research Nε-(carboxymethyl) lysine represses hair follicle formation by inhibiting Sonic hedgehog expression in a NF-κB-independent manner
Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
research Clinical Snippets
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research ZmSPL10, ZmSPL14 and ZmSPL26 act together to promote stigmatic papilla formation in maize through regulating auxin signaling and ZmWOX3A expression
ZmSPL10, ZmSPL14, and ZmSPL26 genes are essential for forming maize structures needed for pollen capture and kernel production.
research A Study of Combined Genotype Effects of SHCBP1 on Wool Quality Traits in Chinese Merino
research 066 Comparison of alopecia areata induction in C3H/HeH mice by injection of lymphocytes from mice with induced vs. spontaneous disease
Both induced and spontaneous AA lymphocytes can cause alopecia areata in mice.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women
A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
research 085 Autoantigen screening in C3H/HeJ mouse model of alopecia areata revealed high antigenicity of melanocyte-associated antigen epitopes
Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
research Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey
Recognizing unusual skin, eye, or hair issues can help diagnose immune system disorders early, especially in children.
research Failure of Topical Estrogen Receptor Agonists and Antagonists to Alter Murine Hair Follicle Cycling
Topical estrogen treatments did not change hair growth in certain mouse strains, questioning previous findings on their role in hair growth control.
research Catamenial-like seizure exacerbation in mice with targeted ablation of extrasynaptic δGABA-a receptors in the brain
Removing certain brain receptors in mice worsens seizure severity and response to treatment during hormone withdrawal.
research Loss of Stem Cells Correlates with Premature Aging in Animal Study, Penn Researchers Find
Removing a key gene in mice leads to premature aging and loss of stem cells.
research Parental Uveitis Influences Offspring With an Increased Susceptibility to the Experimental Autoimmune Uveitis
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research When whorls collide: the development of hair patterns in frizzled 6 mutant mice
Hair follicles in mutant mice self-organize into ordered patterns within a week.