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  1. Article ; Online: Genetics of COVID-19.

    Raskin, Salmo

    Jornal de pediatria

    2020  Volume 97, Issue 4, Page(s) 378–386

    Abstract: Objective: This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, ...

    Abstract Objective: This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of therapies.
    Data source: A literature search was conducted on MEDLINE, BioRxiv, and SciELO, as well as a manual search on the internet (mainly in 2019 and 2020) using the keywords "COVID-19," "SARS-CoV-2," "coronavirus," "genetics," "molecular," "mutation," "vaccine," "Brazil," "Brasil," and combinations of these terms. The keywords "Brazil" and "Brasil" were used to find publications that were specific to the Brazilian population's molecular epidemiology data. Articles most relevant to the scope were selected non-systematically.
    Data synthesis: A number of publications illustrate an expanding knowledge on the genetics and genomics of SARS-CoV-2 and its implications for understanding COVID-19.
    Conclusions: Knowledge of the SARS-CoV-2 genome sequence permits an in-depth investigation of the role its proteins play in the pathophysiology of COVID-19, which in turn will be enormously valuable for understanding the evolutionary, clinical, and epidemiological aspects of this disease and focusing on prevention and treatment.
    MeSH term(s) Brazil ; COVID-19 ; Genomics ; Humans ; SARS-CoV-2
    Keywords covid19
    Language English
    Publishing date 2020-10-07
    Publishing country Brazil
    Document type Journal Article ; Review
    ZDB-ID 731324-x
    ISSN 1678-4782 ; 0021-7557
    ISSN (online) 1678-4782
    ISSN 0021-7557
    DOI 10.1016/j.jped.2020.09.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.B 1265: Show issues Location:
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  2. Article ; Online: New Horizons on the Diagnosis of Hereditary Ataxia.

    Novis, Luiz Eduardo / Raskin, Salmo / Teive, Helio A G

    Movement disorders clinical practice

    2023  Volume 10, Issue 11, Page(s) 1597–1598

    Language English
    Publishing date 2023-09-08
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13877
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Genetics of COVID-19

    Raskin, Salmo

    Jornal de Pediatria ; ISSN 0021-7557

    2020  

    Keywords Pediatrics, Perinatology, and Child Health ; covid19
    Language English
    Publisher Elsevier BV
    Publishing country us
    Document type Article ; Online
    DOI 10.1016/j.jped.2020.09.002
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article: Genetics of COVID-19

    Raskin, Salmo

    Abstract: OBJECTIVE: This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, ... ...

    Abstract OBJECTIVE: This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of therapies. DATA SOURCE: A literature search was conducted on MEDLINE, BioRxiv, and SciELO, as well as a manual search on the internet (mainly in 2019 and 2020) using the keywords "COVID-19," "SARS-CoV-2," "coronavirus," "genetics," "molecular," "mutation," "vaccine," "Brazil," "Brasil," and combinations of these terms. The keywords "Brazil" and "Brasil" were used to find publications that were specific to the Brazilian population's molecular epidemiology data. Articles most relevant to the scope were selected non-systematically. DATA SYNTHESIS: A number of publications illustrate an expanding knowledge on the genetics and genomics of SARS-CoV-2 and its implications for understanding COVID-19. CONCLUSIONS: Knowledge of the SARS-CoV-2 genome sequence permits an in-depth investigation of the role its proteins play in the pathophysiology of COVID-19, which in turn will be enormously valuable for understanding the evolutionary, clinical, and epidemiological aspects of this disease and focusing on prevention and treatment.
    Keywords covid19
    Publisher WHO
    Document type Article
    Note WHO #Covidence: #837713
    Database COVID19

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  5. Article ; Online: A Teenager with Benign Hereditary Chorea and Selective Tooth Agenesis Type 3.

    Andreucci Martins Bonilha, Patrícia Áurea / Martins Nunes, Thábata Emanuelle / Cassarotti, Beatriz / Coutinho, Leo / Cassou, Emanuel / Raskin, Salmo / Teive, Hélio Afonso Ghizoni

    Movement disorders clinical practice

    2023  Volume 10, Issue Suppl 3, Page(s) S35–S37

    Language English
    Publishing date 2023-08-24
    Publishing country United States
    Document type Case Reports
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.13779
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Comment on: Diagnosis of Aicardi-Goutières Syndrome in Adults.

    Pereira, Eduardo R / Franklin, Gustavo L / Raskin, Salmo / Teive, Hélio A G

    Movement disorders clinical practice

    2020  Volume 7, Issue 5, Page(s) 583–584

    Language English
    Publishing date 2020-04-27
    Publishing country United States
    Document type Journal Article
    ISSN 2330-1619
    ISSN (online) 2330-1619
    DOI 10.1002/mdc3.12958
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Phenocopy in a patient with triple negative breast cancer: a case report.

    Costa, Gustavo Henrique Morcelli da / Dias, Eduarda Scoto / Pegoraro, Naiara Bozza / Kohler, Camila Nemetz / Raskin, Salmo / Mikami, Liya Regina

    Einstein (Sao Paulo, Brazil)

    2023  Volume 21, Page(s) eRC0319

    Abstract: A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%-10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to ... ...

    Abstract A total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%-10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c.1813delA, p.Ile605TyrfsTer9 in BRCA2 . The patient underwent genetic testing for BRCA1 and BRCA2 and exome sequencing. Familial or other cancer variants were not detected. The most accepted phenocopy theory is that patients without genetic variants but who are carriers of these mutations undergo cellular changes due to environmental factors, increasing the risk of breast cancer. Therefore, the detection of phenocopy in patients with breast cancer is important in clinical practice.
    MeSH term(s) Female ; Humans ; Adult ; Triple Negative Breast Neoplasms/genetics ; Breast Neoplasms/genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Phenotype ; Mutation
    Language English
    Publishing date 2023-11-17
    Publishing country Brazil
    Document type Case Reports
    ZDB-ID 2418293-X
    ISSN 2317-6385 ; 2317-6385
    ISSN (online) 2317-6385
    ISSN 2317-6385
    DOI 10.31744/einstein_journal/2023RC0319
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Muscle Cramps Profile among Spinocerebellar Ataxias.

    Franklin, Gustavo Leite / Ferreira Camargo, Carlos Henrique / Balaban, Daniel / Marcon, João Matheus / Raskin, Salmo / Meira, Alex Tiburtino / Ghizoni Teive, Hélio Afonso

    Annals of Indian Academy of Neurology

    2022  Volume 25, Issue 4, Page(s) 718–719

    Language English
    Publishing date 2022-01-05
    Publishing country India
    Document type Journal Article
    ZDB-ID 2240174-X
    ISSN 1998-3549 ; 0972-2327
    ISSN (online) 1998-3549
    ISSN 0972-2327
    DOI 10.4103/aian.aian_942_21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.

    Linnenkamp, Bianca Domit Werner / Raskin, Salmo / Esposito, Selene Elifio / Herai, Roberto Hirochi

    Mutation research. Reviews in mutation research

    2020  Volume 785, Page(s) 108319

    Abstract: Cleft lip and palate (CL/P) is among the most common congenital malformations and affects 1 in 700 newborns. CL/P is caused by genetic and environmental factors (maternal smoking, alcohol or drug use and others). Many genes and loci were associated with ... ...

    Abstract Cleft lip and palate (CL/P) is among the most common congenital malformations and affects 1 in 700 newborns. CL/P is caused by genetic and environmental factors (maternal smoking, alcohol or drug use and others). Many genes and loci were associated with cleft lip/palate but the amount of heterogeneity justifies identifying new causal genes and variants. AHRR (Aryl-Hydrocarbon Receptor Repressor) gene has recently been related to CL/P however, few functional studies analyze the genotypephenotype interaction of AHRR with CL/P. Several studies associate the molecular pathway of AHRR to CL/P which indicates this gene as a functional candidate in CL/P etiology.
    Methods: Systematic Literature Review was performed using PUBMED database with the keywords cleft lip, cleft palate, orofacial cleft, AHRR and synonyms. SLR resulted in 37 included articles.
    Results: AHRR is a positional and functional candidate gene for CL/P. In silico analysis detected interactions with other genes previously associated to CL/P like ARNT and CYP1A1. AHRR protein regulates cellular toxicity through TCDD mediated AHR pathway. Exposure to TCDD in animal embryos is AHR mediated and lead to cleft palate due to palate fusion failure and post fusion rupture. AHRR regulates cellular growth and differentiation, fundamental to lip and palatogenesis. AHRR decreases carcinogenesis and recently a higher tumor risk has been described in CL/P patients and families. AHRR is also a smoking biomarker due to changed methylation sites found in smokers DNA although folate intake may partially revert these methylation alterations. This corroborates the role of maternal smoking and lack of folate supplementation as risk factors for CL/P.
    Conclusion: This research identified the importance of AHRR in dioxin response and demonstrated an example of genetic and environmental interaction, indispensable in the development of many complex diseases.
    MeSH term(s) Amino Acid Motifs ; Basic Helix-Loop-Helix Transcription Factors/chemistry ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; Biomarkers/metabolism ; Cleft Lip/genetics ; Cleft Palate/genetics ; DNA Methylation ; Dietary Supplements ; Female ; Folic Acid/metabolism ; Genetic Association Studies ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Protein Domains ; RNA Isoforms/genetics ; Repressor Proteins/chemistry ; Repressor Proteins/genetics ; Repressor Proteins/metabolism ; Risk Factors ; Smoking/adverse effects
    Chemical Substances AHRR protein, human ; Basic Helix-Loop-Helix Transcription Factors ; Biomarkers ; RNA Isoforms ; Repressor Proteins ; Folic Acid (935E97BOY8)
    Language English
    Publishing date 2020-06-05
    Publishing country Netherlands
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Systematic Review
    ZDB-ID 2727833-5
    ISSN 1388-2139 ; 1383-5742
    ISSN (online) 1388-2139
    ISSN 1383-5742
    DOI 10.1016/j.mrrev.2020.108319
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1316 -Rev-: Show issues Location:
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  10. Article ; Online: Spinocerebellar ataxia type 21 (TMEM240) with tremor and dystonia.

    Camargo, Carlos Henrique Ferreira / Piva-Silva, Aline K C / Munhoz, Renato Puppi / Raskin, Salmo / Teive, Hélio Afonso Ghizoni

    European journal of neurology

    2021  Volume 28, Issue 8, Page(s) e63–e64

    MeSH term(s) Dystonia ; Dystonic Disorders ; Humans ; Membrane Proteins ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Degenerations ; Tremor
    Chemical Substances Membrane Proteins ; TMEM240 protein, human
    Language English
    Publishing date 2021-06-23
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.14944
    Database MEDical Literature Analysis and Retrieval System OnLINE

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