research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
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90-120 / 1000+ results research The complex relationship between TFEB transcription factor phosphorylation and subcellular localization
Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
research The structure of human trichohyalin : potential multiple roles as a functional ef-hand-like calcium-binding protein, a cornified cell envelope precursor, and an intermediate filament-associated (cross-linking) protein
Trichohyalin is a versatile protein involved in hair and skin structure.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research A Study of the Expression of Small Conductance Calcium-Activated Potassium Channels (SK1-3) in Sensory Endings of Muscle Spindles and Lanceolate Endings of Hair Follicles in the Rat
SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
research Author Response: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
research Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes
Basonuclin may help control ribosomal RNA gene activity in skin cells.
research The Relationship Between Glycine and Gephyrin in Synapses of the Rat Spinal Cord
Glycine is a key transmitter in rat spinal cord synapses, often alongside GABA.
research Human hair keratin-associated proteins: Sequence regularities and structural implications
Keratin-associated proteins help link filaments and affect keratin's strength.
research Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research The occurrence of the ε-(γ-glutamyl)lysine cross-link in the medulla of hair and quill
research Trichohyalin, an intermediate filament-associated protein of the hair follicle.
Trichohyalin is a protein in hair follicles that helps form hair filaments.
research 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 Issue Information
research Septin4 promotes cell death in human colon cancer cells by interacting with BAX
Septin4 helps kill colon cancer cells by working with the protein BAX.
research Macrofibril Formation
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research Spermidine/spermine-N1-acetyltransferase: a key metabolic regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Three-dimensional reconstructions of mechanosensory end organs suggest a unifying mechanism underlying dynamic, light touch
Dynamic, light touch is sensed through a common mechanism involving Piezo2 channels in sensory axons.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Mycobacterial 65,000 MW heat-shock protein shares a carboxy-terminal epitope with human epidermal cytokeratin 1/2.
A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
research Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 (RSK1) in a Growth- and Stress-dependent Fashion
Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
research Apoptosis and keratin intermediate filaments
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.