research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
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270-300 / 1000+ resultsresearch Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research The Opioid Receptor Influences Circadian Rhythms in Human Keratinocytes through the β-Arrestin Pathway
Delta-opioid receptors affect skin cell circadian rhythms, possibly impacting wound healing and cancer.
research A Novel Type II Cytokeratin, mK6irs, is Expressed in the Huxley and Henle Layers of the Mouse Inner Root Sheath
A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
research Keratin Expression Provides Novel Insight into the Morphogenesis and Function of the Companion Layer in Hair Follicles
Keratin patterns in hair follicles help understand hair growth and potential hair and nail disorders.
research A Ca 2+ /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning
The DMI3 gene is essential for nodule development and symbiosis in certain plants.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
Zinc supplements improved symptoms in a Uyghur infant with a rare genetic disorder affecting zinc absorption.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns
A gene called Taqpep affects cat coat patterns like stripes and blotches.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Pathology of Mouse Models of Accelerated Aging
Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
research The acyl-CoA binding protein is required for normal epidermal barrier function in mice
ACBP is crucial for healthy skin in mice.
research Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models
New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
research Cylindroma as Tumor of Hair Follicle Origin
Cylindromas likely originate from hair follicle stem cells, not sweat glands.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
research Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
Hidradenitis suppurativa is linked to autoinflammation and immune system issues.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Antiaging effect of pleurotus cornucopiae extracts
Golden oyster mushroom extract may protect skin cells from aging by its antioxidant properties.