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The document is a detailed medical reference on skin and genetic disorders.
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research New Familial Association Between Ocular Coloboma and Loose Anagen Syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Novel Splicing-Site Mutation in DCAF17 Gene Causing Woodhouse-Sakati Syndrome in a Large Consanguineous Family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Pathogenesis and Clinical Features of Alopecia in Epidermolysis Bullosa: A Systematic Review
Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
research Telogen Effluvium: A Review of the Literature
The conclusion is that treatments for Telogen Effluvium exist, but standard treatment guidelines are needed.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organs
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research Serum Biotinidase Activity in Children Treated With Valproic Acid and Carbamazepine
Valproic acid does not change biotinidase enzyme activity in children's blood.
research Association Between DNA Methylation in the Core Promoter Region of the CUT-Like Homeobox 1 (CUX1) Gene and Lambskin Pattern in Hu Sheep
DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
research The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature
Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
research Identification of Key Genes and Signaling Pathways Related to Hetian Sheep Wool Density by RNA-Seq Technology
Certain genes and pathways are linked to the production of finer and denser wool in Hetian sheep.
research Proliferative and Non-Proliferative Lesions of the Rat and Mouse Integument
The project created a standardized system for classifying skin lesions in lab rats and mice.
research Cysteine Prevents the Reduction in Keratin Synthesis Induced by Iron Deficiency in Human Keratinocytes
Cysteine helps maintain keratin production in skin cells even when iron is low.
research The Skin and Subcutaneous Tissues: Conditions, Diagnosis, and Systemic Implications
The document concludes that skin and nail changes can indicate various underlying health conditions.
research Development, Structure, and Keratin Expression in C57BL/6J Mouse Eccrine Glands
The study found that mouse sweat glands develop before birth, mature after birth, and have specific keratin patterns.
research Worth a Second Look: A 72-Year-Old Man with Significant Fatigue and Weight Loss
A 72-year-old man had severe fatigue, weight loss, and frequent loose stools.
research Recent Advances in Congenital Ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Defining the Short-Term and Long-Term Skin Manifestations of COVID-19: Insights After More Than Three Years of the Pandemic
COVID-19 can cause various skin issues, but long-term skin problems are rare.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Dupilumab: A Review of Present Indications and Off-Label Uses
Dupilumab is being tested for many new skin, respiratory, and gastrointestinal conditions.
research Genetic Ablation of Myelin Protein Zero-Like 3 in Mice Increases Energy Expenditure, Improves Glycemic Control, and Reduces Hepatic Lipid Synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
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 Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Transport of Biotin in Human Keratinocytes
Human skin cells have a high-affinity system for biotin transport, crucial for skin health.
research Endogenous Skin Fluorescence Is a Good Marker for Objective Evaluation of Comedolysis
Fluorescence can effectively measure acne treatment progress.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Platelet-Rich Plasma in Dermatology: New Insights on the Cellular Mechanism of Skin Repair and Regeneration
PRP helps skin heal, possibly through special cells called telocytes.
research Prevalence of Systemic Hypertension and Control of Systolic Blood Pressure in a Cohort of 14 Dogs with Adrenal-Dependent Hypercortisolism During the First Year of Trilostane Treatment or After Adrenalectomy
Most dogs with adrenal-dependent hypercortisolism had normal blood pressure after one year of treatment or surgery.
research Hair Shaft Abnormalities After Chemotherapy and Tamoxifen Therapy in Patients With Breast Cancer Evaluated by Optical Coherence Tomography
Chemotherapy can cause significant hair thinning and changes in hair texture, while tamoxifen has a smaller effect.