research BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
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research 645 MIG6 is MEK-regulated and affects EGF-induced migration in mutant NRAS melanoma
Decreasing MIG6 can increase the movement and invasiveness of MEK-inhibited mutant NRAS melanoma, particularly when stimulated by EGF.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research Alopecia totalis in an infant
An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
research Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease
Basal cell carcinomas need extra mutations to grow from small to large tumors.
research Keratins and disease at a glance
Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11
Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Molecular Genetics of Inherited Disorders of Epidermal Keratins
Mutations in keratin genes cause skin disorders, but new treatments show promise.
research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata
Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research Somatic mutations distinguish melanocyte subpopulations in human skin
Hair follicles protect melanocytes from sun damage, helping them replenish skin.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research Deleting keratins to find one
A new keratin gene was found in mice, explaining hair growth.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.