research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
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research Levetiracetam in the Treatment of Idiopathic Generalized Epilepsies
Levetiracetam is widely used and generally well-tolerated for treating idiopathic generalized epilepsies, with tiredness as the main side effect.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research A guide to diagnosis and management of hypertrichosis
Hypertrichosis involves excessive hair growth and needs careful diagnosis and treatment, considering its psychological effects.
research Functional Characterization offer-ts, a Temperature-Sensitive FERONIA Mutant Allele That Alters Root Hair Growth
The fer-ts mutation in plants prevents root hair growth at high temperatures.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research 1385 Characterizing the expression of metabolic markers in alopecia areata
The research identified unique metabolic activities in immune cells associated with hair loss in Alopecia Areata.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings
Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
research Ultrastructural localization of hair keratins, high sulfur keratin-associated proteins and sulfhydryl oxidase in the human hair
Hair proteins change location and structure as hair cells mature.
research Keratins and disease at a glance
Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
research Keratins: the hair shaft's backbone revealed
Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Trichohyalin-Like Proteins Have Evolutionarily Conserved Roles in the Morphogenesis of Skin Appendages
Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
research The Fate of Trichohyalin
Trichohyalin is modified by enzymes to form strong structures in hair cells.
research Insights on the mechanical behavior of keratin fibrils
Keratin's mechanical properties are influenced by hydrogen bonds and secondary structure, and can be improved with the SPD-2 peptide.
research ANTI‐HAIR KERATIN MONOCLONAL ANTIBODY (HKN‐2)
HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
research Preparation and Properties of Human Hair Keratin Film Lacking Keratin-Associated Proteins
The new keratin film without KAPs stains better and could help study keratin functions.
research Protein chains in hair and epidermal keratin IF: Structural features and spatial arrangements
research Characterization of a Hair (Wool) Keratin Intermediate Filament Gene Domain
research Beyond Expectations
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research A Fatty Acid / Protein Complex in Human Hair
A fatty acid/protein complex in human hair helps protect it from damage.
research Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
A wide range of proteins are integrated into the skin's protective layer.
research Comparative proteomic analyses using iTRAQ-labeling provides insights into fiber diversity in sheep and goats
The research found specific proteins that affect fiber characteristics and hair growth in sheep and goats.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.