research Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
Search
for
Sort by
Research
90-120 / 1000+ results research Scd1 ab-Xyk: A New Asebic Allele Characterized by a CCC Trinucleotide Insertion in Exon 5 of the Stearoyl-CoA Desaturase 1 Gene in Mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
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 Safety and Efficacy of Advanced and Targeted Acid α-Glucosidase (AT-GAA) (ATB200/AT2221) in ERT-Switch Nonambulatory Patients with Pompe Disease: Preliminary Results from the ATB200-02 Trial
The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.
research Independent DSG4 Frameshift Variants in Cats with Hair Shaft Dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Genome-Wide Association Study Identifies a New Locus JMJD1C at 10q21 That May Influence Serum Androgen Levels in Men
A new gene, JMJD1C, may affect testosterone levels in men.
research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
research A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Folliculin Interacts With P0071 (Plakophilin-4) and Deficiency Is Associated With Disordered RhoA Signalling, Epithelial Polarization, and Cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Transgenic Mouse Models Support HCR as an Effector Gene in the PSORS1 Locus
The HCR gene contributes to psoriasis risk.
research Skin and Hair: Models for Exploring Organ Regeneration
Skin and hair can help us understand organ regeneration, especially how certain stem cells might be used to form new organs.
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Polymorphisms in the Promoter Regions of the CXCL1 and CXCL2 Genes Contribute to Increased Risk of Alopecia Areata in the Korean Population
Certain gene variations increase the risk of alopecia areata in Koreans.
research Taking Advantage of Phenotype Variability in a Local Animal Genetic Resource: Identification of Genomic Regions Associated with the Hairless Phenotype in Casertana Pigs
Researchers found two genes that may explain why some Casertana pigs don't have hair.
research Genome-Wide Association Study Identifies Variants Associated With Hair Length in Brangus Cattle
Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.
research Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
Certain genetic variations are linked to increased androgen levels in PCOS, but more research is needed to understand these connections fully.
research Comparative Proteomics Indicates That Biosynthesis of Pectic Precursors Is Important for Cotton Fiber and Arabidopsis Root Hair Elongation
Pectin biosynthesis is essential for the growth of cotton fibers and Arabidopsis root hairs.
research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research MC4R Variants rs12970134 and rs17782313 Are Associated with Obese Polycystic Ovary Syndrome Patients in the Western Region of Saudi Arabia
Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
research Expression and Function of Nuclear Receptor Co-Activator 4: Evidence of a Potential Role Independent of Co-Activator Activity
NcoA4 may have roles beyond helping control gene activity, possibly affecting cell behavior and stability.
research Association Between Polymorphisms of OCT1 and Metabolic Response to Metformin in Women with Polycystic Ovary Syndrome
Certain genetic variations in OCT1 may improve insulin sensitivity with metformin in women with PCOS.
research The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues
The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research FCE 28260, A New 5α-Reductase Inhibitor: In Vitro and In Vivo Effects
FCE 28260 is a stronger and longer-lasting inhibitor of 5α-reductase than finasteride, which may make it a better treatment for certain medical conditions.
research Perspectives on Hair Evolution Based on Comparative Studies on Vertebrate Cornification
Hair in mammals likely evolved from glandular structures, not scales.