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Yun-Ji Kim, Byulee Yoon, Kyudong Han, Byung Cheol Park
BACKGROUND: Trichorhinophalangeal syndrome (TRPS) patients tend to have alopecia that appears to be androgenetic, and this genetic model might give clues to the pathogenesis of hair loss or hair morphogenesis. OBJECTIVE: This study was conducted to identify additional genetic evidence of TRPS and hair morphogenesis from a TRPS patient. METHODS: From one TRPS type I patient, we extracted RNA and profiled whole transcriptome in non-balding and balding scalp areas using high-throughput RNA sequencing...
October 2017: Annals of Dermatology
Mingjuan Jin, Simeng Gu, Ding Ye, Yingjun Li, Fangyuan Jing, Qilong Li, Kun Chen
There is a widespread occurrence of antisense transcripts' regulation on cancer-related genes in cancer biology. RP11-392P7.6 is antisense to the coding region of cancer-related gene GPRC5D, which has been found recently. The aim of this study was to investigate the associations of tagSNPs in the promoter region of RP11-392P7.6 with the risk of colorectal cancer. We conducted a two-stage case-control study, with a discovery set (320 cases and 319 controls) and a validation set (501 cases and 538 controls). Four tagSNPs (rs1531970, rs1642199, rs4763903, and rs10845671) were selected based on 1000 Genomes Project data and genotyped by using the Sequenom MassARRAY genotyping platform...
July 2017: Environmental and Molecular Mutagenesis
Ye Gao, Xiaolong Wang, Hailong Yan, Jie Zeng, Sen Ma, Yiyuan Niu, Guangxian Zhou, Yu Jiang, Yulin Chen
Cashmere goat skin contains two types of hair follicles (HF): primary hair follicles (PHF) and secondary hair follicles (SHF). Although multiple genetic determinants associated with HF formation have been identified, the molecules that determine the independent morphogenesis of HF in cashmere goats remain elusive. The growth and development of SHF directly influence the quantity and quality of cashmere production. Here, we report the transcriptome profiling analysis of nine skin samples from cashmere goats using 60- and 120-day-old embryos (E60 and E120, respectively), as well as newborns (NB), through RNA-sequencing (RNA-seq)...
2016: PloS One
Phuong Le Vu, Ryo Takatori, Taku Iwamoto, Yutaka Akagi, Hideo Satsu, Mamoru Totsuka, Kazuhiro Chida, Kenji Sato, Makoto Shimizu
Oral ingestion of collagen peptides (CP) has long been suggested to exert beneficial effects on the skin, but the molecular events induced by CP on the skin remain unclear. Here, we investigated the effects of oral CP administration on gene expression in hairless mouse skin and of prolyl-hydroxyproline (Pro-Hyp), a collagen-derived dipeptide, on gene expression in a coculture of mouse skin keratinocytes and fibroblasts. Using microarray analysis, we found that oral administration of CP to hairless mice for 6 weeks induced increased expression of Krtap and Krt genes in the skin...
2015: Skin Pharmacology and Physiology
Honglei Zhou, Isidore Rigoutsos
The 'Retinoic Acid-Inducible G-protein-coupled receptors' or RAIG are a group comprising the four orphan receptors GPRC5A, GPRC5B, GPRC5C and GPRC5D. As the name implies, their expression is induced by retinoic acid but beyond that very little is known about their function. In recent years, one member, GPRC5A, has been receiving increasing attention as it was shown to play important roles in human cancers. As a matter of fact, dysregulation of GPRC5A has been associated with several cancers including lung cancer, breast cancer, colorectal cancer, and pancreatic cancer...
2014: Oncoscience
Simone Feurstein, Frank G Rücker, Lars Bullinger, Winfried Hofmann, Georgi Manukjan, Gudrun Göhring, Ulrich Lehmann, Michael Heuser, Arnold Ganser, Konstanze Döhner, Brigitte Schlegelberger, Doris Steinemann
BACKGROUND: Acute myeloid leukemia with complex karyotype (CK-AML) is a distinct biological entity associated with a very poor outcome. Since complex karyotypes frequently contain deletions of the chromosomal region 12p13 encompassing the tumor suppressor genes ETV6 and CDKN1B, we aimed to unravel their modes of inactivation in CK-AML. RESULTS: To decipher deletions, mutations and methylation of ETV6 and CDKN1B, arrayCGH, SNP arrays, direct sequencing of all coding exons and pyrosequencing of the 5'UTR CpG islands of ETV6 and CDKN1B were performed...
2014: BMC Genomics
Yossi Cohen, Odit Gutwein, Osnat Garach-Jehoshua, Adina Bar-Haim, Abraham Kornberg
In a comparison of gene expression profile in unsorted bone marrow (BM) samples from patients with multiple myeloma (MM), acute leukemia, and diffuse large B-cell lymphoma infiltrating the BM, the leading myeloma distinguishing gene was GPRC5D. This gene was highly expressed in BM samples from the 10 MM cases examined as opposed to minimal expression in samples from the eight cases with other hematological malignancies. Moreover, following antimyeloma treatment the expression of GPRC5D decreased several folds...
November 2013: Hematology (Amsterdam, Netherlands)
Johanna Atamaniuk, Andreas Gleiss, Edit Porpaczy, Birgit Kainz, Thomas W Grunt, Markus Raderer, Bernadette Hilgarth, Johannes Drach, Heinz Ludwig, Heinz Gisslinger, Ulrich Jaeger, Alexander Gaiger
BACKGROUND: G protein-coupled receptor 5D (GPRC5D) is a novel surface receptor. As this new subtype of G protein-coupled receptors was discovered, little is known about the role of this gene. MATERIALS AND METHODS: In this retrospective study, we investigated GPRC5D mRNA expression by real-time polymerase chain reaction (RT-PCR) in bone marrow (BM) of 48 patients with multiple myeloma (MM). RESULTS: Highly variable levels of GPRC5D (median, 288; quartiles, 17-928) were detected in patients with MM, whereas only low expression was detected in normal tissues (median, 1; quartiles, 1-23)...
September 2012: European Journal of Clinical Investigation
Stefan Kurtenbach, Christoph Mayer, Thomas Pelz, Hanns Hatt, Florian Leese, Eva M Neuhaus
BACKGROUND: Chordate evolution is a history of innovations that is marked by physical and behavioral specializations, which led to the development of a variety of forms from a single ancestral group. Among other important characteristics, vertebrates obtained a well developed brain, anterior sensory structures, a closed circulatory system and gills or lungs as blood oxygenation systems. The duplication of pre-existing genes had profound evolutionary implications for the developmental complexity in vertebrates, since mutations modifying the function of a duplicated protein can lead to novel functions, improving the evolutionary success...
2011: BMC Evolutionary Biology
Ana M Mendes-Pereira, David Sims, Tim Dexter, Kerry Fenwick, Ioannis Assiotis, Iwanka Kozarewa, Costas Mitsopoulos, Jarle Hakas, Marketa Zvelebil, Christopher J Lord, Alan Ashworth
Therapies that target estrogen signaling have made a very considerable contribution to reducing mortality from breast cancer. However, resistance to tamoxifen remains a major clinical problem. Here we have used a genome-wide functional profiling approach to identify multiple genes that confer resistance or sensitivity to tamoxifen. Combining whole-genome shRNA screening with massively parallel sequencing, we have profiled the impact of more than 56,670 RNA interference reagents targeting 16,487 genes on the cellular response to tamoxifen...
February 21, 2012: Proceedings of the National Academy of Sciences of the United States of America
Shinichi Inoue, Tadahiro Nambu, Toshiyasu Shimomura
Retinoic acid-inducible gene-1 was originally identified as an orphan G-protein coupled receptor induced by retinoic acid. Three highly homologous oGPCR (GPRC5B, GPRC5C, and GPRC5D) have since been classified into the RAIG1 family. We describe here, the unique tissue distribution of GPRC5D and its mechanism of expression. Hybridization in situ has shown that GPRC5D is expressed in differentiating cells that produce hard keratin, including cortical cells of the hair shaft, the keratogenous zone of the nail, and in a central region of the filiform papillae of the tongue...
March 2004: Journal of Investigative Dermatology
Melanie J Robbins, Kelly J Charles, David C Harrison, Menelas N Pangalos
Recently a novel subfamily of closely related orphan G protein-coupled receptors (GPCRs) was identified, called GPRC5A, GPRC5B, GPRC5C and GPRC5D. Based on sequence homology, these receptors were classified as family C GPCRs, which include metabotropic GABA(B) receptors, metabotropic glutamate receptors, the calcium sensing receptor and a number of pheromone receptors. GPRC5 receptors share approximately 30-40% sequence homology to each other and 25% homology to the other family C members. It has been shown human GPRC5B mRNA is predominantly expressed in the central nervous system...
October 15, 2002: Brain Research. Molecular Brain Research
H Bräuner-Osborne, A A Jensen, P O Sheppard, B Brodin, P Krogsgaard-Larsen, P O'Hara
Recently three orphan G-protein coupled receptors, RAIG1, GPRC5B and GPRC5C, with homology to members of family C (metabotropic glutamate receptor-like) have been identified. Using the protein sequences of these receptors as queries we identified overlapping expressed sequence tags which were predicted to encode an additional subtype. The full length coding regions of mouse mGprc5d and human GPRC5D were cloned and shown to contain predicted open reading frames of 300 and 345 amino acids, respectively. GPRC5D has seven putative transmembrane segments and is expressed in the cell membrane...
April 16, 2001: Biochimica et Biophysica Acta
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