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.
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450-480 / 1000+ resultsresearch 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 Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation
NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
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.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research The JAK/STAT signaling pathway: from bench to clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research The Pathobiology of Skin Aging
Skin aging is a complex process influenced by various factors, leading to wrinkles and sagging, and should be considered a disease due to its health impacts.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research PORÓWNANIE UZNAWALNOŚCI POLSKICH DYPLOMÓW MEDYCZNYCH (LEK/LEK DENT) I SPECJALIZACJI W USA ORAZ RÓWNOWAŻNYCH UPRAWNIEŃ AMERYKAŃSKICH W RP
Polish medical degrees face more complex recognition in the USA than American degrees do in Poland.
research The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
research Aging of hair
Hair ages due to genetics and environmental factors, leading to graying and thinning, with treatments available for some conditions.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Dissecting the boundary of quiescence and activation of murine melanocyte stem cells in the hair follicle niche
Melanocyte stem cells in hair follicles are key to understanding and potentially preventing hair graying.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Autophagy Dysfunction: The Kernel of Hair Loss?
Manipulating cell cleanup processes could help treat hair loss.
research Molecular studies of transient receptor potential Vanilloid 3 (TRPV3)
TRPV3 channels are involved in skin processes and are affected by shear stress, influencing itch and mechanotransduction.
research FGF5 is a crucial regulator of hair length in humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Towards Defining the Pathogenesis of the Hairless Phenotype
The hairless gene mutation causes baldness by disrupting hair follicle structure.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Root hair growth: it's a one way street
Root hair growth in plants is a complex process controlled by many factors working together.
research Signaling and Gene Expression for Water-Tolerant Legume Nodulation
The tropical legume Sesbania rostrata can form nodules in waterlogged conditions using a different method that involves plant hormones and specific genes.
research Palatogenesis and cutaneous repair: A two‐headed coin
Palate formation and skin healing share similar biological processes.
research Auxin signaling gets oxidative to promote root hair growth
Auxin promotes root hair growth through oxidative processes involving reactive oxygen species.
research Identification and profiling of microRNA between back and belly Skin in Rex rabbits (Oryctolagus cuniculus)
Different miRNAs in Rex rabbit skin affect cell processes and hair growth.