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  1. AU="Sahebalzamani, Afsaneh"
  2. AU="Valverde-Molina, José"
  3. AU="Xiangpeng Yuan"
  4. AU="Rajpoot, Akanksha"
  5. AU="Aragaw, Kassaye"
  6. AU="Nalesso, Giovanna"
  7. AU="Remzi, F"
  8. AU="Lely Solari"
  9. AU="Aldridge, Daniel L"
  10. AU=Gross Lissy Z F AU=Gross Lissy Z F
  11. AU="DeVita, Robert"
  12. AU=Berkenstock Meghan K
  13. AU=Saleh Mohammed
  14. AU="Ganesan, Anuradha"
  15. AU="Ye, Yi-Fan"
  16. AU="Astasov-Frauenhoffer, Monika"
  17. AU="Ferrer-Diaz, Alejandra I"
  18. AU="Iwata, Miko"

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  1. Artikel ; Online: A Novel VPS13B Mutation Identified by Whole-Exome Sequencing in Iranian Patients with Cohen Syndrome.

    Karimzadeh, Mohammad Reza / Omidi, Fatemeh / Sahebalzamani, Afsaneh / Saeidi, Kolsoum

    Journal of molecular neuroscience : MN

    2021  Band 71, Heft 12, Seite(n) 2566–2574

    Abstract: Cohen syndrome is caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2. The VPS13B protein is involved in transmembrane transport, Golgi integrity, and neuritogenesis. ... ...

    Abstract Cohen syndrome is caused by homozygous mutation in the vacuolar protein sorting 13 homolog B (VPS13B, also referred to as COH1) gene on chromosome 8q22.2. The VPS13B protein is involved in transmembrane transport, Golgi integrity, and neuritogenesis. Clinical manifestations of Cohen syndrome are mainly intellectual disability, developmental delay, facial abnormalities, and eye disorders. This study aimed to identify the causative variant in two unrelated families with Cohen syndrome. To this end, whole-exome sequencing (WES) was performed to identify the pathogenic variants. A homozygous nonsense variant (NM_017890:c.10369C > T; NP_060360.3: p.Q3457X) in the VPS13B gene was identified and co-segregated with all affected individuals in both families. In silico analysis highly suggested this variant as damaging for protein function. The present study increases the mutation spectrum of the VPS13B gene and could be useful in genetic diagnosis and genetic counseling in Cohen syndrome patients.
    Mesh-Begriff(e) Child ; Codon, Nonsense ; Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Fingers/abnormalities ; Fingers/pathology ; Homozygote ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Microcephaly/genetics ; Microcephaly/pathology ; Muscle Hypotonia/genetics ; Muscle Hypotonia/pathology ; Myopia/genetics ; Myopia/pathology ; Obesity/genetics ; Obesity/pathology ; Phenotype ; Retinal Degeneration/genetics ; Retinal Degeneration/pathology ; Vesicular Transport Proteins/genetics ; Whole Exome Sequencing ; Young Adult
    Chemische Substanzen Codon, Nonsense ; VPS13B protein, human ; Vesicular Transport Proteins
    Sprache Englisch
    Erscheinungsdatum 2021-05-26
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 1043392-2
    ISSN 1559-1166 ; 0895-8696
    ISSN (online) 1559-1166
    ISSN 0895-8696
    DOI 10.1007/s12031-021-01852-4
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel.

    Kannan-Sundhari, Abhiraami / Yan, Denise / Saeidi, Kolsoum / Sahebalzamani, Afsaneh / Blanton, Susan H / Liu, Xue Zhong

    Genetic testing and molecular biomarkers

    2020  Band 24, Heft 10, Seite(n) 674–680

    Abstract: Background: ...

    Abstract Background:
    Mesh-Begriff(e) Adult ; Child ; Child, Preschool ; Deafness/genetics ; Exome/genetics ; Family ; Female ; Genetic Linkage/genetics ; Genetic Testing/methods ; Hearing Loss/diagnosis ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Iran ; Male ; Middle Aged ; Mutation/genetics ; Mutation, Missense/genetics ; Pedigree ; Whole Exome Sequencing/methods
    Chemische Substanzen Intercellular Signaling Peptides and Proteins
    Sprache Englisch
    Erscheinungsdatum 2020-09-29
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2486664-7
    ISSN 1945-0257 ; 1945-0265
    ISSN (online) 1945-0257
    ISSN 1945-0265
    DOI 10.1089/gtmb.2020.0153
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis.

    Shang, Haiqiong / Yan, Denise / Tayebi, Naeimeh / Saeidi, Kolsoum / Sahebalzamani, Afsaneh / Feng, Yong / Blanton, Susan / Liu, Xuezhong

    BioMed research international

    2018  Band 2018, Seite(n) 3103986

    Abstract: Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage ... ...

    Abstract Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity. To date, over 145 loci have been identified to cause nonsyndromic deafness. Furthermore, there are countless families unsuitable for the conventional linkage analysis. In the present study, we used a custom capture panel (MiamiOtoGenes) to target sequence 180 deafness-associated genes in 5
    Mesh-Begriff(e) Female ; Genetic Heterogeneity ; Genetic Linkage/genetics ; Hearing Loss/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Iran ; Male ; Mutation/genetics ; Pedigree
    Sprache Englisch
    Erscheinungsdatum 2018-01-15
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2698540-8
    ISSN 2314-6141 ; 2314-6133
    ISSN (online) 2314-6141
    ISSN 2314-6133
    DOI 10.1155/2018/3103986
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.

    Dehghani, MohammadReza / Mojarad, Majid / Ghayoor Karimiani, Ehsan / Vahidi Mehrjardi, Mohammad Yahya / Sahebalzamani, Afsaneh / Ashrafzadeh, Farah / Beiraghi Toosi, Mehran / Eslahi, Atiyeh / Ahangari, Najmeh / Yassini, Seyed Mojtaba / Hassanbeigi, Afsaneh / Rasti, Azam / Kalantar, Seyed Mehdi / Maroofian, Reza

    Public health genomics

    2017  Band 20, Heft 3, Seite(n) 188–193

    Abstract: Background: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs ... ...

    Abstract Background: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS.
    Methods: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families.
    Results: Homozygosity mapping uncovered a shared ∼2.2-Mb run of homozygosity on chromosome 8q21.3-q22.1 encompassing the known JS-causing TMEM67 gene. Sanger sequencing of a known mutation (NM_153704.5: c.725A>G; p.Asn242Ser) in TMEM67 identified from studying another Iranian family using whole-exome sequencing confirmed the presence of the homozygous mutation in 22 affected members of 12 nuclear families. "Molar tooth" sign of brain magnetic resonance imaging, moderate-to-severe neurodevelopmental delay, and abnormal eye movements were the most common features of affected individuals. In addition, liver disease, seizure, behavioural abnormalities, failure to thrive, and kidney disease were observed variably in some of the patients.
    Conclusion: We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. Therefore, screening for this variant should be considered for genetic testing in Iranian patients with JS. In addition, this finding is important for developing population-specific genetic testing in Iran.
    Mesh-Begriff(e) Abnormalities, Multiple/genetics ; Cerebellum/abnormalities ; Eye Abnormalities/genetics ; Failure to Thrive/genetics ; Female ; Founder Effect ; Genetic Testing ; Genome-Wide Association Study ; Homozygote ; Humans ; Iran ; Kidney Diseases, Cystic/genetics ; Liver Diseases/genetics ; Magnetic Resonance Imaging ; Male ; Membrane Proteins/genetics ; Mutation/genetics ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Retina/abnormalities ; Young Adult
    Chemische Substanzen Membrane Proteins ; TMEM67 protein, human
    Sprache Englisch
    Erscheinungsdatum 2017-07-19
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article
    ZDB-ID 2457023-0
    ISSN 1662-8063 ; 1662-4246
    ISSN (online) 1662-8063
    ISSN 1662-4246
    DOI 10.1159/000477560
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: A Common Ancestral Asn242Ser Mutation in ; Identified in Multiple Iranian Families with Joubert Syndrome

    Dehghani, MohammadReza / Mojarad, Majid / Ghayoor Karimiani, Ehsan / Vahidi Mehrjardi, Mohammad Yahya / Sahebalzamani, Afsaneh / Ashrafzadeh, Farah / Beiraghi Toosi, Mehran / Eslahi, Atiyeh / Ahangari, Najmeh / Yassini, Seyed Mojtaba / Hassanbeigi, Afsaneh / Rasti, Azam / Kalantar, Seyed Mehdi / Maroofian, Reza

    Public Health Genomics

    2017  Band 20, Heft 3, Seite(n) 188–193

    Abstract: Background: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the “molar tooth” sign. JS can manifest a broad range of signs ... ...

    Körperschaft Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, and Reproductive and Genetic Unit, Yazd Research and Clinical Centre for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences Mashhad Hope Generation Genetic Polyclinic, and Razavi Cancer Research Centre, Research and Education Department, Razavi Hospital, Mashhad Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd Paediatric and Genetic Counselling Centre, Kerman Welfare Organization, Kerman Department of Paediatric Neurology, Ghaem Medical Centre, School of Medicine, Mashhad University of Medical Sciences, Mashhad, and Research Centre of Addiction and Behavioural Sciences, Shahid Sadoughi University of Medical Sciences, Yazd, Iran RILD Wellcome Wolfson Centre, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK
    Abstract Background: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the “molar tooth” sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. Methods: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families. Results: Homozygosity mapping uncovered a shared ∼2.2-Mb run of homozygosity on chromosome 8q21.3-q22.1 encompassing the known JS-causing TMEM67 gene. Sanger sequencing of a known mutation (NM_153704.5: c.725A>G; p.Asn242Ser) in TMEM67 identified from studying another Iranian family using whole-exome sequencing confirmed the presence of the homozygous mutation in 22 affected members of 12 nuclear families. “Molar tooth” sign of brain magnetic resonance imaging, moderate-to-severe neurodevelopmental delay, and abnormal eye movements were the most common features of affected individuals. In addition, liver disease, seizure, behavioural abnormalities, failure to thrive, and kidney disease were observed variably in some of the patients. Conclusion: We propose that Asn242Ser is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. Therefore, screening for this variant should be considered for genetic testing in Iranian patients with JS. In addition, this finding is important for developing population-specific genetic testing in Iran.
    Schlagwörter Ciliopathies ; Founder mutation ; Homozygosity ; Iranian families ; Joubert syndrome
    Sprache Englisch
    Erscheinungsdatum 2017-07-19
    Verlag S. Karger AG
    Erscheinungsort Basel, Switzerland
    Dokumenttyp Artikel
    Anmerkung Original Paper
    ZDB-ID 2457023-0
    ISSN 1662-8063 ; 1662-4246
    ISSN (online) 1662-8063
    ISSN 1662-4246
    DOI 10.1159/000477560
    Datenquelle Karger Verlag

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