research Gene Variant in Amish a Clue to Better Aging
A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
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930-960 / 1000+ results research Sexual steroid regulation of spermatogenesis: new actors enter the stage
Estrogens and androgens are crucial for male fertility.
research Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
research Differential expression of type I IRS keratin genes in three breeds of sheep
Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.
research Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy
The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Androgen receptor modulators: a review of recent patents and reports (2012-2018)
New androgen receptor modulators show promise for treating diseases like prostate cancer and muscle wasting.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Limits of Visual Detection for Finasteride Polymorphs in Prepared Binary Mixtures: Analysis by X‐ray Powder Diffraction
research Identification of the Ovine Keratin-Associated Protein 26-1 Gene and Its Association with Variation in Wool Traits
Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene.
Mice with extra sheep genes had hair that fell out and regrew in cycles.
research Analysis of the Long Non-Coding and Messenger RNA Expression Profiles in the Skin Tissue of Super Merino and Small-Tailed Han Sheep
Key genes and RNAs related to hair growth in sheep were identified, aiding future breeding improvements.
research Role of Androgen Receptor in Hypothalamic Regulation of Metabolism and Reproduction
Androgen receptors in the brain affect metabolism and reproduction differently in males and females, and may help manage PCOS symptoms in females.
research Seasonal Variability in Transcript Expression of Type I and Type II Keratins in Wool Follicles of Lustrous Fleece-Producing Magra Sheep
Higher keratin protein levels are important for the wool's shine in Magra sheep.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
A Pomeranian dog had rickets due to a new gene mutation, leading to severe symptoms and euthanasia.
research Determining the Relationship Among Cattle Genotype, Hair Coat Score, and Productivity Through the Investigation of Single Nucleotide Polymorphisms within Prolactin, Dopamine Receptor D2, and Melatonin Receptor 1A
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: No association with female pattern hair loss identified
No link found between specific genes and female pattern hair loss.
research Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
Reduced matriptase activity causes skin and hair issues in both humans and mice.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Isolation and Characterization of Human Repetin, a Member of the Fused Gene Family of the Epidermal Differentiation Complex
Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
research LY191704: a selective, nonsteroidal inhibitor of human steroid 5 alpha-reductase type 1.
LY191704 is a compound that effectively blocks a specific enzyme involved in hormone conversion and could help treat enlarged prostate and hair loss.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.
Lack of KSR1 stops certain skin tumors in mice.
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.