research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
Search
for
Sort by
Research
150-175 / 175 results 
research Mutation-Specific siRNA Knockdown of GJB2: Potential Gene Therapy for Keratitis-Ichthyosis-Deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
research Clinical Snippets: Discoveries in Dermatology and Related Fields
Topical Imiquimod may fight vascular tumors by affecting blood vessels or the immune system, low iron might be linked to some hair loss, removing the top skin layer helps vitamin C get in, genetic testing helps diagnose skin conditions, and too much iron could worsen skin inflammation.
research Porokeratotic Eccrine Ostial And Dermal Duct Nevus And Porokeratotic Eccrine And Hair Follicle Nevus: Is Nomenclature 'Porokeratotic Adnexal Ostial Nevus' More Appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Trichogenic Effect of Topical Ketoconazole Versus Minoxidil 2% in Female Pattern Hair Loss: A Clinical and Trichoscopic Evaluation
Minoxidil works faster, but ketoconazole is a safer alternative for female hair loss.
research Stabilizing Mutations of KLHL24 Ubiquitin Ligase Cause Loss of Keratin 14 and Human Skin Fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Dietary Fat- and Obesity-Sensitive Dermal Adipocyte PKCβ Induction and Inflammation Cross-Talk
Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
research Paraoxonase 1 (PON1) L55M and Q192R Polymorphisms, Lipid Profiles, and Psoriasis
The PON1 192R gene variant is linked to a higher risk of psoriasis and heart disease in Western Mexico.
research Development of an Intrinsic Skin Sensor for Blood Glucose Level with CRISPR-Mediated Genome Editing in Epidermal Stem Cells
Researchers created a skin graft that senses blood glucose and could treat diabetes using CRISPR-edited stem cells.
research Transcriptomics Identifies Potential Novel Therapeutic Targets in Androgenetic Alopecia
Found new possible treatments for hair loss.
research Hair and Nail Relationship: A Comparative Study
Hair and nails are similar keratin structures with different shapes and growth, affected by the same diseases and environmental factors.
research Congenital Atrichia Associated with Situs Inversus and Mesocardia
A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
research Erythrokeratodermia Variabilis in a 4-Year-Old Girl with Erythematous, Hyperkeratotic Skin Lesions
A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.
research Two Novel MBTPS2 Missense Mutations Impairing S2P Proteolytic Activity Lead to IFAP Syndrome With New Phenotypic Anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research The Role of Nrf2 in Hearing Loss
Activating Nrf2 can help protect against hearing loss.
research EGFR Controls Hair Shaft Differentiation in a p53-Independent Manner
EGFR helps control how hair grows and forms without needing p53 protein.
research Botanical Extract Combined with Minoxidil Improves Hidrotic Ectodermal Dysplasia Caused by p.G11R Mutations: A Case Report
Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Clinical Snippets: Insights into Dermatological Health and Disease
Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
research Insulin Pump Therapy: Accu-Chek FlexLink Plus, The First Self-Retracting Needle Catheter and Accu-Chek LinkAssist Plus
The Accu-Chek FlexLink Plus and Accu-Chek LinkAssist Plus make insulin pump use safer, simpler, and more comfortable.
research High Auxin and High Phosphate Impact on RSL2 Expression and ROS Homeostasis Linked to Root Hair Growth in Arabidopsis Thaliana
High levels of auxin increase root hair growth by activating RSL2 and producing ROS, while high phosphate levels hinder growth by repressing RSL2.
research Tissue Homeostasis and Regeneration: Human Limitations and Potential
Humans have limited regenerative abilities, but new evidence shows the adult brain and heart can regenerate, and future treatments may improve this by mimicking stem cell environments.
research Character, Genre, And Ethos In Nineteenth-Century British Drama
Nineteenth-century British drama closely reflected the era's societal values and concerns.
research Transcriptome Profiling of Pilosebaceous Units in Male Androgenetic Alopecia Reveals Altered Junctional Networks
Hair loss in male pattern baldness is linked to changes in specific genes and proteins that affect hair growth and scalp health.