research Updates to Male Infertility: AUA/ASRM Guideline 2024
The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
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research Clinical Case Notes: Tamoxifen Optic Neuropathy
A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research Hague: A New Mouse Hair Mutation With an Unstable Semidominant Allele
A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
research A Mouse with Bad Hair and Poor Taste
A defective gene causes hair loss and taste insensitivity in BTBR mice.
research Social Selection Favors Offspring Prone to the Development of Androgenetic Alopecia
Society's pressure to have children later in life favors genes that increase the risk of early baldness in male offspring.
research Identification of Novel Mutation in the HR Gene Responsible for Atrichia with Papular Lesions in a Pakistani Family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research It's X-Related: Biological Bases of Increased COVID-19 Morbidity and Mortality in Men
Men have worse COVID-19 outcomes than women due to genetic and hormonal differences.
research Alopecia Areata Is Associated With MICA and an Extended HLA Haplotype
Certain genes are linked to the risk of developing Alopecia Areata.
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 Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
A mutation in mice causes hair loss and immune problems.
research Insertional Mutation of the Hairless Locus on Mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Taking Advantage of Phenotype Variability in a Local Animal Genetic Resource: Identification of Genomic Regions Associated with the Hairless Phenotype in Casertana Pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research Uncovering the Genetic Architecture and Evolutionary Roots of Androgenetic Alopecia in African Men
The research found that genetic factors for male pattern baldness in African men differ significantly from those in Europeans.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research British Society for Dermatopathology 2011 Findings
Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
research Molecular Mechanisms of Y Chromosome Loss and UTY Gene Activity
Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
research Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies New Loci Explaining a Substantial Fraction of Hair Color Variation and Heritability
New genetic locations explain much of hair color variation in Europeans.
research A Splice Variant in KRT71 Is Associated with Curly Coat Phenotype of Selkirk Rex Cats
A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
research Sex Chromosome Related Dimorphism in Steroidogenic Enzymes and Androgen Receptor in Response to Testosterone Treatment: An In Vitro Study on Human Primary Skeletal Muscle Cells
Chromosomal differences affect how muscle cells respond to testosterone.
research The Diversity of Sex Development: What Conditions Affecting Sex Development Teach Us About Sexual Diversity
Conditions affecting sex development show that sexual diversity is a natural part of human variation.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Pallister-Killian Syndrome: A Case Study
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Genetic Association of Wool Quality Characteristics in United States Rambouillet Sheep
Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
research A Pilot Study of Intrascalp Platelet-Rich Plasma Injections for Hair Loss in Nigerian Patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Androgen Receptors And Their Biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research Evolution And Genetic Architecture Of Sex-Limited Polymorphism In Cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
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.