research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
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390-420 / 1000+ resultsresearch Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Comment on 'A prospective real world study evaluating serum levels of arginine and cysteine in females with chronic telogen effluvium: do we really need blanket prescription with amino acid supplementation?'
Amino acid supplements may not be necessary for all women with chronic hair loss.
research TREATMENT OF VALPROATE‐INDUCED HYPERAMMONEMIA
Stopping valproate and using lactulose can quickly treat valproate-induced hyperammonemia.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research PREVENTION OF GRAFT-VERSUS-HOST DISEASE BY INTRATHYMIC INJECTION OF RECIPIENT-TYPE SPLENOCYTES INTO DONOR1
Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research THE LOCALIZATION AND SIGNIFICANCE OF ARGININE AND CITRULLINE IN PROTEINS OF THE HAIR FOLLICLE
Arginine converts to citrulline in hair follicles as proteins harden.
research 030 Impaired Glutathione Synthesis in Hair Follicle Stem Cell Niches in Alopecia Areata
Alopecia Areata may involve reduced antioxidant defenses in hair follicles, affecting stem cell function.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Hair Follicle Transglutaminases and the Formation of ε-(γ-Glutamyl) Cross-links
Transglutaminases help form strong hair by linking proteins, and can potentially alter hair properties.
research Diagnosis and treatment of methylmalonic acidemia in 14 cases
Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Widespread erythematous scaly eruption in an infant with phenylketonuria
Restoring phenylalanine levels improved skin and hair symptoms in a PKU infant.
research MG53 Mitigates Nitrogen Mustard-Induced Skin Injury
MG53 helps reduce skin damage caused by nitrogen mustard.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research Ionizable Coenzyme‐Engineered Lipid/Fiber Microplexes Boost Ribosomal Translation to Improve mRNA Therapy for Degenerative Diseases
New lipid/fiber microplexes improve mRNA therapy for degenerative diseases by enhancing cell function and treatment effectiveness.
research The deduced sequence of the novel protransglutaminase E (TGase3) of human and mouse
Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
research Severe Zinc Deficiency in Male and Female Rats
Zinc is crucial for growth and health in rats.
research Trichotillomania: a case report with clinical and dermatoscopic differential diagnosis with alopecia areata
Trichotillomania is often misdiagnosed as alopecia areata and can be treated effectively with N-acetylcysteine and psychotropic drugs.
research UV light may induce hypertrichosis through production of PGE2
UV light might cause excessive hair growth by increasing PGE2 in the skin.
research Finding Parallels
Human stem cells can aid stroke recovery, research experiences boost students' career aspirations, minoxidil may reduce cancer spread, a molecule can slow tumor growth, a protein affects water flow in cells, magnesium behaves differently at tiny scales, and a new method detects slow-moving objects.
research Self-Efficacy Is the Key
Undergraduate research experiences boost students' research skills, confidence, and career aspirations.
research Highway Deconstruction
The document concludes that human astrocytes aid stroke recovery, research confidence affects student career aspirations, collagen affects cancer spread, a microRNA suppresses brain cancer growth, calmodulin regulates water channels, and small magnesium pieces deform differently.
research Targeting receptor–regulator interactions
New treatments for cancer and skin disorders show promise in disrupting harmful cell interactions and promoting hair growth.
research Chaperones as thermodynamic sensors
New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
research A new way to restore tumour suppressor function
New treatments may restore cancer-blocking proteins, slow prostate cancer, identify drug targets, and potentially regrow hair.