research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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60-90 / 1000+ resultsresearch Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Effects of adenosine triphosphate on vandetanib induced skin damage in rats
ATP helps prevent skin damage from vandetanib by reducing stress.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Extracellular ATP and Adenosine Signaling in Arabidopsis: Investigating Cellular Modulation
Extracellular ATP promotes growth, while adenosine inhibits it in Arabidopsis plants.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research Extracellular ATP in Plants. Visualization, Localization, and Analysis of Physiological Significance in Growth and Signaling
Extracellular ATP is crucial for plant root growth and signaling.
research Differential expression and functionality of ATP-binding cassette transporters in the human hair follicle
Certain transporters are found in human hair follicles and may affect hair growth and loss.
research A Synonymous Polymorphism of APCDD1 Affects Translation Efficacy and is Associated with Androgenic Alopecia
A specific gene change in APCDD1 increases the risk of hair loss.
research The ATP sensitive potassium channel (KATP) is a novel target for migraine drug development
Blocking the KATP channel may help treat migraines.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Structure of human type II 5 alpha-reductase gene.
The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
research Structure of human type II 5 alpha-reductase gene
The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
research Size Polymorphisms in the Human Ultrahigh Sulfur Hair Keratin-Associated Protein 4, KAP4, Gene Family
The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
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 CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research Disease causing homozygous variants in the human hairless gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research 780 Novel mechanism of UVB-mediated pigmentation through the axis of ATP-P2X7
Scientists discovered a new way UVB light increases skin pigmentation through the ATP-P2X7 pathway.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research KRT72 wt Allele
KRT72 gene helps form hair.