research Case Report: Heterozygous Mutation in HTRA1 Causing Typical Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
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30 / 1000+ resultsresearch 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.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Baricitinib reduces inflammation and improves cell health in premature aging cells.
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research National Scientific Medical Meeting 1996 Abstracts
The document summarizes medical findings on topics like heart rhythm treatment, sleep apnea therapy, and various health conditions and treatments.
research STUB1 Mutations in Autosomal Recessive Ataxias – Evidence for Mutation-Specific Clinical Heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research A Rare Case of Biotinidase Deficiency
An infant with seizures and hair loss was diagnosed with biotinidase deficiency and treated successfully with biotin.
research Telogen Hair Loss and Androgenetic-Like Alopecia in GAPO Syndrome
A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Roles of Wnt7a in Embryo Development, Tissue Homeostasis, and Human Diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Rectangular-Patterned Occipital Alopecia Areata: A Report of Three Cases
Sudden, unusual hair loss may indicate serious underlying health issues.
research Targeting Integrin Pathways: Mechanisms and Advances in Therapy
New therapies are being developed that target integrin pathways to treat various diseases.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Papillon-Lefèvre Syndrome: A Rare Case Report and a Brief Review of Literature
Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
research Liver Transplantation for Propionic Acidemia in Children
Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.
research The Hairless Gene of the Mouse: Relationship of Phenotypic Effects with Expression Profile and Genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Scalp Hair Characteristics in the Newborn Infant
Assessing newborn scalp hair can reveal important health information.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Inhibition of Steroid 5 Alpha-Reductase with Finasteride: Sleep-Related Erections, Potency, and Libido in Healthy Men
Finasteride doesn't affect erections much, but may decrease libido in men.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research 8th Postgraduate Seminar in Pediatric Dermatology
Experts discussed treatments for skin conditions in children, emphasizing hydration, cautious medication use, and early intervention for infections.