research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
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research Molecular Elements of the Regulatory Control of Keratin Filament Modulator AHF/Trichohyalin in the Hair Follicle
The study concluded that a protein important for hair strength is regulated by certain molecular processes and is affected by growth phases.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Non-Invasive Human Skin Transcriptome Analysis Using mRNA in Skin Surface Lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research Expression of Nerve Growth Factor in Skin Tissues and Its Effect on the Proliferation of Outer Root Sheath Cells in Cashmere Goats
Nerve growth factor helps cashmere goat hair cells grow and is more active during the hair growth phase.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Deletion of DNA Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Biology of the Wool Follicle: An Excursion into a Unique Tissue Interaction System Waiting to Be Rediscovered
The article concludes that the wool follicle is a valuable model for studying tissue interactions and has potential for genetic improvements in wool production.
research Cloning of a Functional Vitamin D Receptor from the Lamprey, an Ancient Vertebrate Lacking a Calcified Skeleton and Teeth
Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and Structure: Annotated Tables
Mutant mice help researchers understand hair growth and related genetic factors.
research Steroidogenesis of the Testis: New Genes and Pathways
New genes and pathways are important for testosterone production and male sexual development.
research The Disease Spectrum, Epidemiology, and Etiology of Toxic-Shock Syndrome
Toxic Shock Syndrome cases increased due to new factors, but decreased with public health measures and changes in tampon use.
research The Prostamide-Related Glaucoma Therapy, Bimatoprost, Offers a Novel Approach for Treating Scalp Alopecias
Bimatoprost, a glaucoma medication, may also help treat hair loss.
research Systemic Lupus Erythematosus: Definitions, Contexts, Conflicts, Enigmas
The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.
research Hair Restoration Surgery: Challenges and Solutions
Hair restoration surgery effectively treats hair loss with natural-looking results, using techniques like stem cells and platelet-rich plasma.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Physiological Changes and Dermatoses of Pregnancy
Most pregnant women experience skin changes like darkening and itching, while serious skin conditions are rare but need early treatment.
research ROBO4 Deletion Ameliorates PAF-Mediated Skin Inflammation by Regulating the mRNA Translation Efficiency of LPCAT1/LPCAT2 and the Expression of PAF Receptor
Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
research Interpretation of Laboratory Data and General Physical Examination by Pharmacists
Pharmacists should interpret lab data and perform physical exams to improve patient care.
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 Plaque Psoriasis: Clinical Characteristics, Diagnostic Methods, and Differential Diagnoses
The document concludes that diagnosing and managing plaque psoriasis, particularly in sensitive areas, is challenging and requires careful differentiation from similar skin conditions.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research Proteins Observed in Scalp Hair from Preschool Children
Mothers have more hair proteins than their children, with age-related differences in protein patterns, and some proteins in hair could indicate early childhood development.
