research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
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research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Testosterone Levels in Relation to Oral Contraceptive Use and the Androgen Receptor CAG and GGC Length Polymorphisms in Healthy Young Women
Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
research Challenges Associated With the Identification of Germline Variants on Myeloid Malignancy Genomic Profiling—A Singaporean Experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Perspectives of Kennedy's Disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
research 46,XY DSD Due to Impaired Androgen Production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research Lymphoid Enhancer-Binding Factor-1 Interacts with the DNA-Binding Domain of the Vitamin D Receptor
LEF1 interacts with Vitamin D Receptor, affecting hair follicle regeneration and this could be linked to hair loss conditions.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease
The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Keratinic Amyloid Deposition in Canine Hair Follicle Tumors
Some canine hair follicle tumors contain amyloid deposits, with a protein called CK5 involved in their formation.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Replicative Stress, Stem Cells, and Aging
Maintaining DNA health in stem cells is key to preventing aging and tissue breakdown.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research The Hair Follicle as a Dynamic Mini-Organ
Hair follicles are complex, dynamic mini-organs that help us understand cell growth, death, migration, and differentiation, as well as tissue regeneration and tumor biology.
research Vitamin D Receptor: Molecular Signaling and Actions of Nutritional Ligands in Disease Prevention
Vitamin D receptor interacts with certain dietary components to help prevent diseases and regulate hair growth.
research Molecular Mechanisms of Viral Oncogenesis in Humans
Some viruses can cause cancer by changing cell processes and avoiding the immune system; vaccines and targeted treatments help reduce these cancers.
research The Disintegrin/Metalloproteinase Adam10 Is Essential for Epidermal Integrity and Notch-Mediated Signaling
Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
research Targeting the Wnt Pathways for Therapies
Blocking the Wnt pathway could lead to new treatments for cancer and tissue repair but requires careful development to avoid side effects.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.