research The Role of EAAT4 in Epidermal Differentiation and Calcium Homeostasis during Aging
EAAT4 decreases with age, harming skin function and calcium balance.
Search
for
Sort by
Research
90-120 / 1000+ results research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research The TIP GROWTH DEFECTIVE1 S-Acyl Transferase Regulates Plant Cell Growth in Arabidopsis
The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
research Polymorphisms in the Human High Sulfur Hair Keratin-associated Protein 1, KAP1, Gene Family
Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research The SYP123-VAMP727 SNARE complex is involved in the delivery of inner cell wall components to the root hair shank in Arabidopsis
The SYP123-VAMP727 complex is important for transporting materials that harden the root hair shank in Arabidopsis.
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research MOF-mediated histone H4 Lysine 16 acetylation governs mitochondrial and ciliary functions by controlling gene promoters
MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research A Novel Human Type II Cytokeratin, K6hf, Specifically Expressed in the Companion Layer of the Hair Follicle
K6hf is a unique protein found only in a specific layer of hair follicles.
research KIF18B is a cell-type specific regulator of spindle orientation in the epidermis
KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research egfl6 expression in the pharyngeal pouch is dispensable for craniofacial development
Egfl6 is not needed for zebrafish face development.
research COX2-ATP Synthase Regulates Spine Follicle Size in Hedgehogs
COX2 and ATP synthase control the size of hedgehog spines.
research hKAP1.6 and hKAP1.7, Two Novel Human High Sulfur Keratin-Associated Proteins are Expressed in the Hair Follicle Cortex
Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
research Analysis of Cytokines and ATP in Plucked Hair Follicles
ATP and IL-10 levels in hair follicles relate to follicle length and hair growth, with differences in alopecia patients.
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research Genes for intermediate filament proteins and the draft sequence of the human genome
The study found 65 intermediate filament genes, including new keratins, and suggested updating keratin naming.
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 Fidelity of the Human Mitochondrial DNA Polymerase
Human mitochondrial DNA polymerase makes very few errors, crucial for preventing degenerative diseases.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.