research HtrA1L364P Leads to Cognitive Dysfunction and Vascular Destruction Through TGF-β/Smad Signaling Pathway in CARASIL Model Mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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research Misdiagnosis as Asphyxiating Thoracic Dystrophy and CMV-Associated Hemophagocytic Lymphohistiocytosis in Shwachman-Diamond Syndrome
Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
research Biomedical Applications of Organoids in Genetic Diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research A Pair of Transmembrane Receptors Essential for the Retention and Pigmentation of Hair
Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Genetic Basis of Skin Appendage Development
Hair, teeth, and mammary glands develop similarly at first but use different genes later.
research WNT Signaling in the Control of Hair Growth and Structure
The research shows that a gene called Wnt3 affects hair growth and structure, causing short hair and balding when overactive.
research Human and Animal Cells Under Influence of Different Lighting and Stimuli
Different light affects cell functions and can help treat skin conditions.
research ATP-Competitive mTOR Kinase Inhibitors Delay Plant Growth by Triggering Early Differentiation of Meristematic Cells Without Developmental Patterning Change
Certain inhibitors slow down plant growth by causing early cell specialization without changing the cell development pattern.
research Pharmacological BACE1 and BACE2 Inhibition Induces Hair Depigmentation by Inhibiting PMEL17 Processing in Mice
Blocking BACE1 and BACE2 enzymes causes hair color loss in mice.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Dutasteride Reduces Alcohol’s Sedative Effects in Men in a Human Laboratory Setting and Reduces Drinking in the Natural Environment
Dutasteride makes alcohol less sedating and may lead to less drinking in men.
research Realizing the Therapeutic Potential of Neuroactive Steroid Modulators of the GABAA Receptor
Neuroactive steroids show promise for treating mental and neurological disorders by targeting GABA_A receptors.
research Influence of NUDT15 Genotyping on Dose Intensity of Thiopurine Administration and Long-Term Clinical Outcomes
Personalized thiopurine dosing based on NUDT15 genotyping can improve long-term outcomes for ulcerative colitis and Crohn's disease patients.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research P63 Targeted Deletion Under the FOXN1 Promoter Disrupts Pre- and Post-Natal Thymus Development, Function, and Maintenance, and Induces Severe Hair Loss
Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Role of Sulfur Metabolism Gene and High-Sulfur Gene Expression in Wool Growth Regulation in the Cashmere Goat
Certain genes related to sulfur metabolism are more active during the growth phase of Cashmere goat wool, and melatonin might help this process.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Downstream Molecular Responses to Volatile Signaling in Roots
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
research Hdac1 and Hdac2 Regulate the Quiescent State and Survival of Hair-Follicle Mesenchymal Niche
Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
research Relating Neurosteroid Modulation of Inhibitory Neurotransmission to Behavior
Neurosteroids can influence behavior by modulating brain inhibition, with potential for treating psychiatric disorders.
research Possible Therapeutic Effects of Ozone Mixture on Hypoxia in Tumor Development
Ozone therapy might improve cancer treatment and reduce its side effects.
research Interaction Between Estrogens and Androgen Receptor Genes Microsatellites, Prostate-Specific Antigen, and Androgen Receptor Expressions in Breast Cancer
Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
research The Effect of Dietary Modulation of Sulfur Amino Acids on Cystathionine Beta Synthase–Deficient Mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Type 2 Innate Immunity Regulates Hair Follicle Homeostasis to Control Demodex Pathosymbionts
A specific immune response helps control mite populations on the skin, maintaining healthy hair follicles.