research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
Search
for
Sort by
Research
60-90 / 1000+ results research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Novel Frameshift Mutation in TRPS1 in a Ukrainian Patient with Trichorhinophalangeal Syndrome Type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research An Industry Update: What's New in the Field of Therapeutic Delivery This Month?
New drugs for Alzheimer's and rheumatoid arthritis advanced, a Zika vaccine is in development, and there were business deals in anesthesia and oncology.
research Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Four-Amino Acid Segment in Steroid 5 Alpha-Reductase 1 Confers Sensitivity to Finasteride, a Competitive Inhibitor
Four-amino acid part makes enzyme sensitive to finasteride.
research Proliferation, But Not Apoptosis, Is Associated With Distinct Beta-Catenin Expression Patterns in Non-Small-Cell Lung Carcinomas
Distinct β-catenin patterns are linked to cell growth, not cell death, in lung cancer.
research The Development of Several Organs and Appendages Is Impaired in Mice Lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research Androgen Receptor Gene CAG and GGN Polymorphisms in Infertile Nigerian Men
Certain gene variations are not a major cause of male infertility in Nigerian men.
research Identification and Characterization of an Antisense RNA Transcript (GFG) from the Human Basic Fibroblast Growth Factor Gene
Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
research Novel PAX9 Mutation Associated with Syndromic Tooth Agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research Trichorhinophalangeal Syndrome with Low Expression of TRPS1 on Epidermal and Hair Follicle Epithelial Cells
Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
research Therapeutic Hotline: Genetic Variations in the Androgen Receptor Gene and Finasteride Response in Women with Androgenetic Alopecia Mediated by Epigenetics
Women with greater androgen sensitivity respond better to finasteride for hair loss.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Endoplasmic Reticulum Stress at the Crossroads of Progeria and Atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations
Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
research Characterization of a Mouse Scube3 Reporter Line
Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
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 Identification of a Novel Heterozygous Mutation in the First Japanese Case of Marie Unna Hereditary Hypotrichosis
Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
research A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Lack of Concordance and Linkage Disequilibrium Among Brothers for Androgenetic Alopecia and CAG/GGC Haplotypes of the Androgen Receptor Gene in Mexican Families
No clear link between specific gene and hair loss in Mexican brothers.
research Lgr5 Marks Cycling, Yet Long-Lived, Hair Follicle Stem Cells
Lgr5 is a marker for active, long-lasting stem cells in mouse hair follicles.
research The Agouti Mouse Model: An Epigenetic Biosensor for Nutritional and Environmental Alterations on the Fetal Epigenome
Diet changes can protect against harmful environmental effects on fetal development.
research The Transcriptional Repressor CDP (Cutl1) Is Essential for Epithelial Cell Differentiation of the Lung and the Hair Follicle
CDP is crucial for lung and hair follicle cell development.
research Cloning of Wrinkle-Free, a Previously Uncharacterized Mouse Mutation, Reveals Crucial Roles for Fatty Acid Transport Protein 4 in Skin and Hair Development
Fatty acid transport protein 4 is essential for skin and hair development.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research Human Hair Keratin-Associated Proteins
Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.