research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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research Index
The document is a detailed medical reference on skin and genetic disorders.
research Genome-Wide Target Enrichment-Aided Chip Design: A 66K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
research Light Microscopic Hair Abnormalities in Children: Retrospective Review of 119 Cases in a 10-Year Period
Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
research The Rotterdam Study: 2014 Objectives and Design Update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research Nonclassic Congenital Adrenal Hyperplasia and the Heterozygote Carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Updates in the Pathogenesis of Alopecia Areata
Alopecia areata is an autoimmune condition causing hair loss, linked to genetic factors and immune system issues, with no cure yet.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
research Spontaneous Fertility in a Male Patient with Testotoxicosis Despite Suppression of FSH Levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Nerve Dependence in Tissue, Organ, and Appendage Regeneration
Nerves are crucial for the regeneration of various body parts in many animals.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research Genome-Wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26
Hair loss gene found on chromosome 3q26.
research One of These Things Is Not Like the Others: The Idea of Precedence in Health Technology Assessment and Coverage Decisions
The conclusion is that formalizing how past decisions influence current health technology assessments could improve the credibility and defense of coverage decisions.
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 Review of Human Hair Follicle Biology: Dynamics of Niches and Stem Cell Regulation for Possible Therapeutic Hair Stimulation for Plastic Surgeons
Understanding hair follicle biology and stem cell control could lead to new hair loss treatments.
research New Pharmaceutical Concepts for Sebaceous Gland Diseases: Implementing Today's Pre-Clinical Data into Tomorrow's Daily Clinical Practice
New treatments for skin conditions related to the sebaceous gland are being developed based on current research.
research SlPHL1, a MYB-CC Transcription Factor Identified from Tomato, Positively Regulates the Phosphate Starvation Response
SIPHL1 from tomato enhances plants' response to low phosphate levels.
research Molecular Basis of Androgenetic Alopecia
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Androgenetic Alopecia in Heterozygous Carriers of a Mutation in the Human Hairless Gene
Mutation in hairless gene may increase hair loss risk.
research Genetic Screening of Non-Classic CAH Females with Hyperandrogenemia Identifies a Novel CYP11B1 Gene Mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Stem Cells and the Niche: A Dynamic Duo
Stem cell niches are crucial for regulating stem cell behavior and tissue health, and their decline can impact aging and cancer.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Genetics and Other Factors in the Etiology of Female Pattern Hair Loss
Female pattern hair loss has unclear causes, possibly involving genetics, hormones, and environment, and needs better treatments.
research Comparative Genome Analyses Reveal the Unique Genetic Composition and Selection Signals Underlying the Phenotypic Characteristics of Three Chinese Domestic Goat Breeds
Chinese domestic goats have unique genetic traits due to domestication and geographic isolation.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Interventional and Intrinsic Airway Homeostasis and Repair
The document concludes that more research is needed to understand airway repair and to improve tissue engineering for lung treatments.
research Bald Thigh Syndrome in Sighthounds: Revisiting the Cause of a Well-Known Disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Variation and Heritability in Hair Diameter and Curvature in an Australian Twin Sample
Hair diameter and curvature are mostly determined by genetics.