research Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene
Researchers found a new mutation causing total hair loss from birth.
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150-180 / 1000+ results research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research The Interplay of Oxidative Stress and Immune Dysfunction in Hashimoto’s Thyroiditis and Polycystic Ovary Syndrome: A Comprehensive Review
Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
The KRTAP21-1 gene affects wool yield and can help improve wool production.
research Identification of the Keratin-Associated Protein 22-2 Gene in Capra Hircus and Its Association with Cashmere Traits
A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
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 Generation of Tβ4 Knock-In Cashmere Goat Using CRISPR/Cas9
Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
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 Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research Glossary
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Androgen Receptors And Their Biology
Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
research Reversing Wrinkled Skin and Hair Loss in Mice by Restoring Mitochondrial Function
Restoring mitochondrial function in mice reversed their skin wrinkling and hair loss.
research Molecular Modeling and Structural Characterization of a High Glycine–Tyrosine Hair Keratin Associated Protein
The 3D structure of a key hair protein was modeled, revealing specific helical structures and stabilization features.
research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study
No clear link between androgen receptor variation and hair loss, but more research needed.
research Increased Dipicolinic Acid Production with an Enhanced spoVF Operon in Bacillus Subtilis and Medium Optimization
Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
research Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Molecular Pathology of Skin Adnexal Tumors
New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research The Transcriptional Regulator Prdm1 Is Essential for the Early Development of the Sensory Whisker Follicle and Is Linked to the Beta-Catenin First Dermal Signal
Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research New Frontiers in CRISPR/Cas9 Delivery Systems for Gene Editing
Efficient delivery systems are needed for the clinical use of CRISPR-Cas9 gene editing.
research Polymorphisms in the Human High Sulfur Hair Keratin-Associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Hairless-Knockout Piglets Generated Using CRISPR/Cas9 Exhibit Abnormalities in Skin and Thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Immunology and Genetics
The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.