research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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270-300 / 1000+ resultsresearch Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Two Siblings With a Novel Nonsense Mutation, p.R50X, in the Vitamin D Receptor Gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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 Stat3 Partly Inhibits Cell Proliferation Via Direct Negative Regulation of FST Gene Expression
The protein STAT3 slows down cell growth by blocking the FST gene, which affects hair development in sheep.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Mycobacteriosis in a Pet Ferret (Mustela putorius furo) Caused by Mycobacterium Xenopi: A Case Report on Neglected Risk of Zoonotic Transmission
A pet ferret had a serious infection from Mycobacterium xenopi, which can spread to humans.
research Botryococcus Terribilis Ethanol Extract Exerts Anti-Inflammatory Effects on Murine RAW264 Cells
Botryococcus terribilis Ethanol Extract may reduce inflammation by changing gene expression in cells.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
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 Werner's Syndrome: Incidental Finding During Pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research An Acutely Unwell and Rare Presentation of Systemic Lupus Erythematosus: A Case Report
Early recognition and treatment of SLE can improve outcomes in patients with complex symptoms.
research Melanocytes in Regenerative Medicine Applications and Disease Modeling
Melanocytes are important for normal body functions and have potential uses in regenerative medicine and disease treatment.
research Clinical Applications of Exosomes in Cosmetic Dermatology
Exosomes could improve skin and hair treatments but are limited by cost, production difficulty, and need for more research.
research Systemic Lupus Erythematosus Presenting With Homonymous Hemianopia
Lupus can cause unusual vision problems, so it's important to consider it in such cases.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research A Novel Pathogenic Variant of NECTIN4 Gene in a Child With Ectodermal Dysplasia-Syndactyly Syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Conference 2022, The Sequel
The document encourages attending the 2023 Dermatology Nurses' Association Convention.
research Alcohol and Prostate Cancer: Time to Draw Conclusions
Drinking a lot of alcohol increases the risk of prostate cancer and can worsen the condition.
research A Nonredundant Human Protein Chip for Antibody Screening and Serum Profiling
The technology can help diagnose and subtype autoimmune diseases by identifying specific autoantibodies.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Immune-Mediated Coombs Negative Intravascular Hemolysis in Systemic Lupus Erythematosus
A woman with lupus had blood cell destruction, treated successfully with medication.
research Association Between Human Hair Loss and the Expression Levels of Nucleolin, Nucleophosmin, and UBTF Genes
Hair loss is significantly linked to lower levels of certain genes in hair follicles.
research Tumor Necrosis Factor-Alpha and Polycystic Ovarian Syndrome: A Clinical, Biochemical, and Molecular Genetic Study
High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
research The Effect of Topical RU58841 (Androgen Receptor Blocker) Combined with Minoxidil on Hair Growth in Macaque Androgenetic Alopecia
Combining RU58841 and minoxidil significantly increases hair growth.
research Percutaneous Absorption of Minoxidil in Humans
Minoxidil absorbs poorly through skin, with low risk of side effects at 1-2% concentration.
research In Vitro Suppression of Human Lymphocyte Activity by Minoxidil
Minoxidil may help hair growth by stopping immune system attacks on hair follicles.
research Hydroa Vacciniforme with Mucosal Involvement and Recalcitrant Periodontitis and Multiple Virus Reactivations After Sun Exposure
Women with early onset androgenetic alopecia have worse lipid profiles.