{"title":"t(1;19)(q22;p13.2) MEF2D/DAZAP1","authors":"Tl Gindina","doi":"10.4267/2042/70681","DOIUrl":"https://doi.org/10.4267/2042/70681","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cutaneous mastocytosis","authors":"Karen M. Chisholm","doi":"10.4267/2042/70659","DOIUrl":"https://doi.org/10.4267/2042/70659","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44367703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"KLK6 (kallikrein-related peptidase 6)","authors":"P. Karousi, C. Kontos, A. Scorilas","doi":"10.4267/2042/70658","DOIUrl":"https://doi.org/10.4267/2042/70658","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"t(2;11)(p23;q12.3) EEF1G/ALK","authors":"Luigi Cristiano","doi":"10.4267/2042/70660","DOIUrl":"https://doi.org/10.4267/2042/70660","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a member of the ALDH gene superfamily. Aldehyde dehydrogenases (ALDHs) are responsible for the metabolism of aldehydes (exogenous and endogenous) through NAD(P)-dependent oxidation to their corresponding carboxylic acids or CoA esters. Different biological functions have been attributed to the different ALDH family members. The cytosolic enzyme ALDH1A1 is involved in the catalysis of retinol (vitamin A) metabolite retinaldehyde to retinoic acid (RA). RA acts as a ligand for the nuclear receptors retinoic receptor (RAR) and the retinoid X receptor (RXR) and therefore regulates the transcriptional activity of genes involved in multiple important processes including proliferation, differentiation, and apoptosis.
醛脱氢酶1A1 (ALDH1A1)是ALDH基因超家族的成员。醛脱氢酶(ALDHs)负责通过NAD(P)依赖的氧化将醛(外源性和内源性)代谢为相应的羧酸或辅酶a酯。不同的ALDH家族成员具有不同的生物学功能。胞质酶ALDH1A1参与了视黄醇(维生素A)代谢物视黄醛到视黄酸(RA)的催化作用。RA作为核受体retinoic receptor (RAR)和retinoid X receptor (RXR)的配体，调节参与增殖、分化和凋亡等多个重要过程的基因的转录活性。
{"title":"ALDH1A1 (Aldehyde Dehydrogenase 1 family member A1)","authors":"S. Tunçer, Rümeysa Çamlica, Idris Yilmaz","doi":"10.4267/2042/70676","DOIUrl":"https://doi.org/10.4267/2042/70676","url":null,"abstract":"Aldehyde dehydrogenase 1A1 (ALDH1A1) is a member of the ALDH gene superfamily. Aldehyde dehydrogenases (ALDHs) are responsible for the metabolism of aldehydes (exogenous and endogenous) through NAD(P)-dependent oxidation to their corresponding carboxylic acids or CoA esters. Different biological functions have been attributed to the different ALDH family members. The cytosolic enzyme ALDH1A1 is involved in the catalysis of retinol (vitamin A) metabolite retinaldehyde to retinoic acid (RA). RA acts as a ligand for the nuclear receptors retinoic receptor (RAR) and the retinoid X receptor (RXR) and therefore regulates the transcriptional activity of genes involved in multiple important processes including proliferation, differentiation, and apoptosis.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Retinoblastoma (hereditary predisposition)","authors":"F. Ariani, A. Pinto, A. Renieri","doi":"10.4267/2042/70662","DOIUrl":"https://doi.org/10.4267/2042/70662","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"EEF1G (Eukaryotic translation elongation factor 1 gamma)","authors":"L. Cristiano","doi":"10.4267/2042/70656","DOIUrl":"https://doi.org/10.4267/2042/70656","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Eukaryotic translation elongation factor 1 delta, alias EEF1D, is a protein-coding gene that plays a role in the elongation step of translation and considering its importance it is found frequently overexpressed in human cancer cells. This review collects the data on DNA/RNA, on the protein encoded and on the diseases where EEF1D is involved.
{"title":"EEF1D (eukaryotic translation elongation factor 1 delta)","authors":"L. Cristiano","doi":"10.4267/2042/70678","DOIUrl":"https://doi.org/10.4267/2042/70678","url":null,"abstract":"Eukaryotic translation elongation factor 1 delta, alias EEF1D, is a protein-coding gene that plays a role in the elongation step of translation and considering its importance it is found frequently overexpressed in human cancer cells. This review collects the data on DNA/RNA, on the protein encoded and on the diseases where EEF1D is involved.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"t(1;19)(q22;p13.2) MEF2D/HNRNPUL1","authors":"Tl Gindina","doi":"10.4267/2042/70682","DOIUrl":"https://doi.org/10.4267/2042/70682","url":null,"abstract":"","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70516543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Partial or complete chromosome 3 gains resulting from the presence of trisomy 3, unbalanced translocation or isochromosome formation has been observed in different types of non-Hodgkin's lymphomas (NHL). Among them, the isochromosome of the long arm of chromosome 3 is a relatively rare chromosome aberration, associated mainly with B-cell NHL. However, its occurrence is not restricted to lymphomas, as the detection of +i(3)(q10) is considered a specific marker of polyclonal B-cell lymphocytosis with binucleated lymphocytes (PPBL) associated with an increase frequency of chromosome 3 instability as well as it may also be found in myeloid malignancies.
{"title":"i(3)(q10) in non-Hodgkin's lymphoma (NHL)","authors":"A. Zámečníkova","doi":"10.4267/2042/70608","DOIUrl":"https://doi.org/10.4267/2042/70608","url":null,"abstract":"Partial or complete chromosome 3 gains resulting from the presence of trisomy 3, unbalanced translocation or isochromosome formation has been observed in different types of non-Hodgkin's lymphomas (NHL). Among them, the isochromosome of the long arm of chromosome 3 is a relatively rare chromosome aberration, associated mainly with B-cell NHL. However, its occurrence is not restricted to lymphomas, as the detection of +i(3)(q10) is considered a specific marker of polyclonal B-cell lymphocytosis with binucleated lymphocytes (PPBL) associated with an increase frequency of chromosome 3 instability as well as it may also be found in myeloid malignancies.","PeriodicalId":52212,"journal":{"name":"Atlas of Genetics and Cytogenetics in Oncology and Haematology","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46418611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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