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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510-540 / 1000+ results research CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Adult Stem Cells
Adult stem cells are effective and ethically acceptable for treating various diseases.
research The thrill of scientific discovery and leadership with my group
The author felt excited and honored to receive the 2016 Early Career Life Scientist Award.
research Discovery of Four New FGF5 Variants Causing Long Hair in the Dog
Four new FGF5 gene variants cause long hair in dogs.
research Genetics of infertility and “assisted fertilization” in the Bible: The case of Abraham and his family
Abraham's family infertility may have a genetic explanation.
research Transposon control as a checkpoint for tissue regeneration
Controlling transposable elements is crucial for successful tissue regeneration.
research The heme-responsive PrrH sRNA regulatesPseudomonas aeruginosapyochelin gene expression
PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
research Ear pinna growth and differentiation is conserved in murids and requires BMP signaling for chondrocyte proliferation
BMP5 is essential for ear cartilage cell growth in rodents.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair
Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
research Foxn1 in Skin Development, Homeostasis and Wound Healing
Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
research Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
The research confirms that Hidradenitis Suppurativa is characterized by increased inflammation, disrupted skin cell organization, and abnormal metabolic processes.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness
Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
research The Vitamin D Receptor Is a Wnt Effector that Controls Hair Follicle Differentiation and Specifies Tumor Type in Adult Epidermis
Vitamin D receptor helps control hair growth and could be used to treat certain skin tumors.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research Goat Genomic Resources: The Search for Genes Associated with Its Economic Traits
Identifying specific genes helps improve goat breeding for better traits like growth and milk production.
research Neuregulin3 alters cell fate in the epidermis and mammary gland
Neuregulin3 affects cell development in the skin and mammary glands.
research Manipulation of outer root sheath cell survival perturbs the hair-growth cycle
Overexpression of certain genes can shorten hair by disrupting the hair-growth cycle.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Genomic Characterization of Quality Wool Traits in Spanish Merino Sheep
Key genes linked to wool quality in Spanish Merino sheep can improve fine wool production.
research Mammary Cells with Active Wnt Signaling Resist ErbB2-Induced Tumorigenesis
Cells with active Wnt signaling are less likely to turn into cancer when exposed to a cancer-causing gene.
research Frontiers in Topical Photoprotection
Sunscreen technology is improving with new ingredients and methods to better protect skin from sun damage.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Optimal stimulation toward the dermal papilla lineage can be promoted by combined use of osteogenic and adipogenic inducers
Combining specific inducers helps dermal papilla cells regain hair-forming ability.
research Recent Advances in Genome-Editing Technology with CRISPR/Cas9 Variants and Stimuli-Responsive Targeting Approaches within Tumor Cells: A Future Perspective of Cancer Management
New CRISPR/Cas9 variants and nanotechnology-based delivery methods are improving cancer treatment, but choosing the best variant and overcoming certain limitations remain challenges.
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
research Skinspan: A Holistic Roadmap for Extending Skin Longevity With Evidence‐Based Interventions
The framework suggests sun protection, retinoids, and antioxidants to improve skin longevity.