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: Castleman's Disease of the Lacrimal Gland
The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
research Variation In The Ovine Keratin-Associated Protein 15-1 Gene Affects Wool Yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research The Functional Relevance of the Type 1 Cytokines IFN-γ and IL-2 in Alopecia Areata of C3H/HeJ Mice
IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
research Biphenotypic Leukemia
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
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 Marie-Unna Hereditary Hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor Alpha Expression During Squamous Differentiation of Cultured Keratinocytes
As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
research British Hair and Nail Society Findings on Hair and Nail Disorders
Men with a certain type of hair loss often use facial moisturizers, and a specific antibiotic treatment may help another hair condition.
research A New Tool for Conditional Gene Manipulation in a Subset of Keratin-Expressing Epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Congenital Atrichia: A Case Report
Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
research Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding Locus
A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
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 Mapping of a Novel Locus for Keratosis Follicularis Squamosa on Chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research The Sheep KAP8-2 Gene, A New KAP8 Family Member That Is Absent In Humans
Sheep have a unique gene, KAP8-2, that humans don't have, which may affect wool properties.
research Lanceolate Hair-J (LahJ): A Mouse Model for Human Hair Disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Clinical Snippets: Dermatological Studies on hCAP18, PSORS1, Hair Follicle Generation, and Solar Lentigines
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research Cloning of the Human Phenol Sulfotransferase Gene Family: Three Genes Implicated in the Metabolism of Catecholamines, Thyroid Hormones, and Drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research Differential Structural Properties and Expression Patterns Suggest Functional Significance for Multiple Mouse Desmoglein 1 Isoforms
Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
research Increased Copy Number of the TERT and TERC Telomerase Subunit Genes in Cancer Cells
Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
research Endocrine Intervention for Transsexuals
Hormone treatment for transsexual individuals is effective but carries risks like thromboembolic events and mood changes, with most side effects being minor and reversible.
research Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome
Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
research Female Pattern Hair Loss in Complete Androgen Insensitivity Syndrome
Hair loss in women may have causes other than hormones.