research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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180-210 / 1000+ results research Genotype Triad for HOTAIR rs10783618, LINC-ROR rs1942347, and MALAT1 rs3200401 as Molecular Markers in Systemic Lupus Erythematous
Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
research SARS-CoV-2 Infection and Alpha-Synucleinopathies: Potential Links and Underlying Mechanisms
COVID-19 may worsen Parkinson's disease by affecting certain brain proteins.
research Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies
Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
research Matricellular Proteins in the Homeostasis, Regeneration, and Aging of Skin
Special proteins are important for skin balance, healing, and aging, and affect skin stem cells.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Harnessing miRNA Milk-Derived Exosomes for Hair Loss Disorders: In Vitro Modulation of WNT Signaling and Dermal Papilla Proliferation
Milk-derived exosomes may help treat hair loss by boosting hair follicle growth.
research The X Factor in Immunity: Sex Differences Shaped by the X Chromosome
Females generally have stronger immune responses than males due to the X chromosome.
research The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs
Wrinkled skin in Xiang pigs is linked to gene changes related to oxidative stress and the extracellular matrix.
research Evolution of long scalp hair in humans
Long scalp hair evolved for cooling and social signaling.
research Progress in Research and Prospects for Application of Precision Gene-Editing Technology Based on CRISPR–Cas9 in the Genetic Improvement of Sheep and Goats
CRISPR/Cas9 gene-editing shows promise for improving sheep and goat breeding but faces challenges with efficiency and accuracy.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
research Poster Presentations
Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
research Using WGCNA (weighted gene co-expression network analysis) to identify the hub genes of skin hair follicle development in fetus stage of Inner Mongolia cashmere goat
Researchers found WNT10A to be a key gene in developing goat hair follicles.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Targeting the Hippo/YAP /TAZ signalling pathway: Novel opportunities for therapeutic interventions into skin cancers
Blocking YAP/TAZ could be a new way to treat skin cancer.
research Use of Antiandrogens as Therapeutic Agents in COVID-19 Patients
Antiandrogens may help prevent or treat COVID-19 by blocking virus entry into cells.
research Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs
Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
research Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects
Combining genetic models helps improve heat tolerance in beef cattle.
research Genetics and Epigenetics of Polycystic Ovary Syndrome
Genes and epigenetic changes are important in the development of Polycystic Ovary Syndrome.
research Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.
research Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome
Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
research 236 Wnt/planar cell polarity impairment and the genetics of yellow nail syndrome
Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.
research 1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages
Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
research Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients
A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.