research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
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research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Nitric Oxide: Physiological Functions, Delivery, and Biomedical Applications
Nitric Oxide has potential in medicine, especially for infections and heart treatments, but its short life and delivery challenges limit its use.
research Research Snippets
New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.
research FGF Family: From Drug Development to Clinical Application
FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
Mutations in the DSG4 gene cause specific hair and scalp issues.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Functional stem-cell based tissue engineered vascular grafts for high-risk donor populations
Diabetic patients' stem cells make vascular grafts more prone to clots, but new methods may improve grafts.
research Hair Transplantation: Current Concepts and Techniques
The document concludes that hair transplantation is recommended for those not helped by medical treatments, but warns that high-density transplants may lower hair survival rates.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Homing of stem cells to sites of inflammatory brain injury after intracerebral and intravenous administration: a longitudinal imaging study
Stem cells can move to brain injury sites and be tracked, showing promise for treating brain diseases.
research Transcriptomic Analysis Provides Molecular Insights into Skin Development in Dezhou Donkey Foals
Skin maturation in Dezhou donkey foals involves better barrier function, hair growth, and less collagen production.
research The Who’s, What’s, and “Y”s: Y Sex Chromosome Loss and Methylation for Analysis in Male Aging and Mortality and Forensic Science Applications
Understanding the Y chromosome is key to male health, aging, and developing diagnostic tools.
research Analysis of genome DNA methylation at inherited coat-color dilutions of Rex Rabbits
Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
research Fabrication of a 3D hair follicle‐like hydrogel by soft lithography
Researchers created a 3D hydrogel that mimics human hair follicles, which may help with hair loss treatments.
research 192 MicroRNAs and their regulatory interactions in the human hair follicle
The research found that certain microRNAs are important for human hair growth and health.
research Histologic morphology and involucrin, filaggrin, and keratin expression in normal canine skin from dogs of different breeds and coat types
Different dog breeds have varying skin thickness and protein expression in their skin.
research Australasian Society for Dermatology Research Meeting, May 2007
The document suggests a bacteria plays a significant role in acne rosacea and that white hair can regain color after transplant, meriting more research on reversing grey hair.
research Proteomic Characterization of Damaged Single Hairs Recovered after an Explosion for Protein-Based Human Identification
Explosions don't stop hair proteins from being used to identify people.
research ROBOTIC HAIR TRANSPLANTATION – ARTIFICIAL INTELLIGENCE PLUS HUMAN TOUCH
Robotic hair transplantation with AI offers more reliable, precise, and efficient hair restoration.
research The Hair Follicle as an Estrogen Target and Source
Estrogens significantly influence hair growth by interacting with receptors in hair follicles and may help regulate the hair growth cycle.
research Against the Rules: Human Keratin K80
Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.