research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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90-120 / 1000+ resultsresearch 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.
research Evidence that mirex promotes a unique population of epidermal cells that cannot be distinguished by their mutant Ha-ras genotype
Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
research Alterations in Methionine Cycle and Wnt/MAPK Signaling Associated with HMBi-Induced Cashmere Growth in Goats
HMBi supplementation boosts cashmere growth by affecting specific metabolic and signaling pathways in goats.
research Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans
Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Dimorphic regulation of the MafB gene by sex steroids in hamsters (Mesocricetus auratus)
Sex steroids affect the MafB gene differently in male and female hamsters.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research Type II Epithelial Keratin 6hf (K6hf) Is Expressed in the Companion Layer, Matrix, and Medulla in Anagen-Stage Hair Follicles
K6hf is found in specific parts of hair follicles, nails, and tongue, and is linked to hair growth and structure.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
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 Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research Mouse hair keratin cDNA: Implications and sequences
Scientists identified and cloned specific keratin proteins in mouse hair.
research Coordination of force-generating actin-based modules stabilizes and remodels membranes in vivo
Actin filaments help stabilize and reshape cell membranes.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research Polymorphism in the A2M gene associated with high-quality milk in Murrah buffaloes (Bubalus bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research LncRNA MSTRG.14227.1 regulates the morphogenesis of secondary hair follicles in Inner Mongolia cashmere goats via targeting ADAMTS3 by sponging chi-miR-433
LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
research Author response: Structural basis of malodour precursor transport in the human axilla
The transporter protein SH1446 in Staphylococcus hominis is key to underarm odor production.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research O 17-6 Carcinome améloblastique mandibulaire
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Gsdma3 is required for hair follicle differentiation in mice
The Gsdma3 gene is essential for normal hair development in mice.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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 The development of several organs and appendages is impaired in mice lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research MLO‐mediated Ca2+ influx regulates root hair tip growth in Arabidopsis
MLO proteins help regulate calcium and ROS levels, promoting root hair growth in Arabidopsis.
research Deletions in the KAP6-1 gene are associated with fiber traits in cashmere-producing goats
Certain changes in the KAP6-1 gene affect the thickness and length of cashmere goat fibers.
research Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency
A missing mK6irs1 gene causes hair loss in mice.