research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
Search
for
Sort by
Research
30-60 / 1000+ results
research 056 IKZF1 and IKAROS overexpression contributes to the pathogenesis of alopecia areata
Too much IKZF1 and Ikaros protein may cause alopecia areata.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Krtap11-1, a hair keratin-associated protein, as a possible crucial element for the physical properties of hair shafts
Krtap11-1 is important for hair strength and structure.
research The role of Paraoxonase 1 in Alopecia Areata, a Marker and a Severity Index
Lower Paraoxonase 1 levels in alopecia areata patients suggest antioxidant treatment might help.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research YAP1 promotes adipogenesis by regulating the negative feedback mechanism of the Hippo signaling pathway via LATS2
YAP1 helps fat cell formation by influencing the Hippo pathway.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Using Precise Objectives to Enhance Student Achievement in Health Education.
Precise objectives can improve student achievement in health education.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Data from Activator Protein-1 Activity Regulates Epithelial Tumor Cell Identity
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research The Fraser Complex Proteins (Frem1, Frem2, and Fras1) Can Form Anchoring Cords in the Absence of AMACO at the Dermal–Epidermal Junction of Mouse Skin
Certain skin proteins can form anchoring structures without the protein AMACO.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A certain gene variation can affect protein production and is linked to male pattern baldness.
research 097 LFA-1 blockade prevents the onset of alopecia areata in C3H/HeJ mice
Blocking LFA-1 prevents hair loss in mice.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research 52243 AH-001: An Emerging Androgen Receptor Degrader Showing Therapeutic Potential in Addressing Androgenetic Alopecia (AGA)
AH-001 could be a safer and more effective treatment for hair loss.
research A Receptor-Like Kinase Mediates Ammonium Homeostasis and Is Important for the Polar Growth of Root Hairs inArabidopsis
The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
research AIMP1-derived peptide secreted from hair follicle stem cells activates dermal papilla cells to promote hair growth
A peptide from hair follicle stem cells promotes hair growth by activating specific skin cells.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research 229 Single cell transcriptomics identifies a potential role for Arg1+ macrophages in alopecia areata pathogenesis
Arg1+ macrophages may play a role in causing alopecia areata.
research Comprehensive Analysis of LncRNA AC010789.1 Delays Androgenic Alopecia Progression by Targeting MicroRNA-21 and the Wnt/β-Catenin Signaling Pathway in Hair Follicle Stem Cells
The LncRNA AC010789.1 slows down hair loss by promoting hair follicle growth and interacting with miR-21 and the Wnt/β-catenin pathway.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research Characterisation and functional analysis of the WIF1 gene and its role in hair follicle growth and development of the Angora rabbit
The WIF1 gene is crucial for hair growth in Angora rabbits.