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  1. AU="Bommireddipalli, Shobhana"
  2. AU="Damart, Sébastien"
  3. AU="Cormier, Kayla"
  4. AU="Wan, Yanzhi"
  5. AU="Jahan, Nuzrath"
  6. AU="Iannazzo, Roberta"
  7. AU="Lynn Henry, N"
  8. AU="Francesco Bonella"
  9. AU="Raviv, Yael" AU="Raviv, Yael"
  10. AU="Li, Chuhui"
  11. AU="Säämänen, Jari"
  12. AU="Attila Frigy"
  13. AU="Solyst, W"
  14. AU="Mitchell, Colleen C"
  15. AU="Kurbatov, Ilya Y"
  16. AU="Guevara-Álvarez, A"
  17. AU="Barker, Darren"
  18. AU="Muschaweckh, Andreas"
  19. AU="Saibi, Lotfi"
  20. AU=Wagener Jeffrey S AU=Wagener Jeffrey S
  21. AU="Christian Tschuschke"
  22. AU="Gong, Hexiang"
  23. AU="Ziembiec, Nancy A"
  24. AU="Hameed, Safraj Shahul"
  25. AU="Elliott, Alison M"
  26. AU="Nakeshbandi, Mohamed"
  27. AU=Sonthalia Nikhil AU=Sonthalia Nikhil
  28. AU="Kohanbash, Gary" AU="Kohanbash, Gary"
  29. AU=Nawrocki Mariusz J.
  30. AU="Jayme Borensztajn"
  31. AU=Schaerf Raymond H M
  32. AU="Chachar, Aijaz Zeeshan Khan"
  33. AU=Forster H V
  34. AU=Yang G-F
  35. AU="Kaplan, Robert C"
  36. AU="Rood, Julian I."
  37. AU="Manhes, Caroline"
  38. AU="Jacobsen, Cristiane Cavalcanti"
  39. AU="Anja Kukic"
  40. AU="Zhang, N"
  41. AU="Cunningham, Thomas J"
  42. AU="Wu, Y P"
  43. AU="Sumbul, Sabiha"
  44. AU="Razolli, Daniela S"
  45. AU="Asif, Mohsin"
  46. AU="Choudhary, Diksha"
  47. AU="Liu, Yongmei"
  48. AU=Goldshaid Liat
  49. AU="Sandeep Dhayade"
  50. AU="Ashkin, David"
  51. AU="Yukioka, Hideo"
  52. AU="Giles, M"
  53. AU="Keshavarzian, Tina"
  54. AU="Richard Holtmeier"
  55. AU=Sanborn Keri B
  56. AU=Crestani Larissa AU=Crestani Larissa
  57. AU=Nassiri Amir Ahmad
  58. AU="Keiser, Olivia"
  59. AU="Scholz, Martin"
  60. AU="Vassilis Pigadas" AU="Vassilis Pigadas"
  61. AU="Schlievert, Patrick M"
  62. AU=Egan Katie G
  63. AU="Benzadón, Mariano"
  64. AU="Truong, Thérèse"
  65. AU="de Oliveira, Aline Lima"
  66. AU="Lehto, Sonya G"
  67. AU="Simi Jacob"
  68. AU="Shipman, Michael"
  69. AU=Pons Linda
  70. AU="Notoya, A"
  71. AU="Williams, Olajide A"
  72. AU=Errington Jeff
  73. AU="Tortolani, Christina C"
  74. AU="Patel, Jenil R"
  75. AU="Aires, Rafaela"
  76. AU="Habibelahi, Abbas"
  77. AU="Temes, Javier"
  78. AU="Miwa, Toru"
  79. AU="Jaller, Elvira"
  80. AU="Manso Sanchez, L M"

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  1. Artikel ; Online: SpliceVault predicts the precise nature of variant-associated mis-splicing.

    Dawes, Ruebena / Bournazos, Adam M / Bryen, Samantha J / Bommireddipalli, Shobhana / Marchant, Rhett G / Joshi, Himanshu / Cooper, Sandra T

    Nature genetics

    2023  Band 55, Heft 2, Seite(n) 324–332

    Abstract: Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current method can reliably predict whether exon-skipping, cryptic activation or multiple events will result, greatly complicating clinical interpretation of ... ...

    Abstract Even for essential splice-site variants that are almost guaranteed to alter mRNA splicing, no current method can reliably predict whether exon-skipping, cryptic activation or multiple events will result, greatly complicating clinical interpretation of pathogenicity. Strikingly, ranking the four most common unannotated splicing events across 335,663 reference RNA-sequencing (RNA-seq) samples (300K-RNA Top-4) predicts the nature of variant-associated mis-splicing with 92% sensitivity. The 300K-RNA Top-4 events correctly identify 96% of exon-skipping events and 86% of cryptic splice sites for 140 clinical cases subject to RNA testing, showing higher sensitivity and positive predictive value than SpliceAI. Notably, RNA re-analyses showed we had missed 300K-RNA Top-4 events for several clinical cases tested before the development of this empirical predictive method. Simply, mis-splicing events that happen around a splice site in RNA-seq data are those most likely to be activated by a splice-site variant. The SpliceVault web portal allows users easy access to 300K-RNA for informed splice-site variant interpretation and classification.
    Mesh-Begriff(e) RNA Splicing/genetics ; RNA Splice Sites/genetics ; Base Sequence ; Alternative Splicing/genetics
    Chemische Substanzen RNA Splice Sites
    Sprache Englisch
    Erscheinungsdatum 2023-02-06
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-022-01293-8
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studies.

    Katiyar, Disha / Anderson, Neil / Bommireddipalli, Shobhana / Bournazos, Adam / Cooper, Sandra / Goel, Himanshu

    European journal of medical genetics

    2020  Band 63, Heft 9, Seite(n) 104000

    Abstract: The primary cilium is an organelle which plays an important role in the transduction of signals in the Wnt and Sonic hedgehog pathways. Abnormal or absent primary cilia result in various neurodevelopmental, retinal, renal, hepatic and musculoskeletal ... ...

    Abstract The primary cilium is an organelle which plays an important role in the transduction of signals in the Wnt and Sonic hedgehog pathways. Abnormal or absent primary cilia result in various neurodevelopmental, retinal, renal, hepatic and musculoskeletal abnormalities. Joubert syndrome (JS) is a ciliopathy with a prevalence estimated to be between 1:80 000 and 1:100 000. JS occurs due to bi-allelic mutations in one of the 34 identified genes, all of which encode for protein components of the primary cilia. The presentation of JS is highly variable, however a clinical diagnosis can be established by the presence of the molar tooth sign on axial brain MRI, hypotonia in infancy, and developmental delay. JS is less severe than Meckel syndrome (MKS), which is another recessive, and often lethal, ciliopathy. This report outlines an interesting case of JS, in which two novel mutations in B9D1 were identified. This gene is not commonly associated with JS, and is often implicated in MKS. Functional mRNA study was helpful in delineating the pathogenic role of novel variants in this case.
    Mesh-Begriff(e) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Cerebellum/abnormalities ; Cerebellum/pathology ; Cytoskeletal Proteins/genetics ; Eye Abnormalities/genetics ; Eye Abnormalities/pathology ; Female ; Genetic Testing/methods ; Humans ; Kidney Diseases, Cystic/genetics ; Kidney Diseases, Cystic/pathology ; Mutation, Missense ; RNA Splicing ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Retina/abnormalities ; Retina/pathology ; Young Adult
    Chemische Substanzen B9D1 protein, human ; Cytoskeletal Proteins ; RNA, Messenger
    Sprache Englisch
    Erscheinungsdatum 2020-07-02
    Erscheinungsland Netherlands
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2020.104000
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

    Bryen, Samantha J / Zhang, Katharine / Dziaduch, Gregory / Bommireddipalli, Shobhana / Naseri, Take / Reupena, Muagututi'a Sefuiva / Viali, Satupa'itea / Minster, Ryan L / Waddell, Leigh B / Charlton, Amanda / O'Grady, Gina L / Evesson, Frances J / Cooper, Sandra T

    Clinical genetics

    2023  Band 103, Heft 5, Seite(n) 553–559

    Abstract: EMC1 encodes subunit 1 of the endoplasmic reticulum (ER) membrane protein complex (EMC), a transmembrane domain insertase involved in membrane protein biosynthesis. Variants in EMC1 are described as a cause of global developmental delay, hypotonia, ... ...

    Abstract EMC1 encodes subunit 1 of the endoplasmic reticulum (ER) membrane protein complex (EMC), a transmembrane domain insertase involved in membrane protein biosynthesis. Variants in EMC1 are described as a cause of global developmental delay, hypotonia, cortical visual impairment, and commonly, cerebral atrophy on MRI scan. We report an individual with severe global developmental delay and progressive cerebellar atrophy in whom exome sequencing identified a heterozygous essential splice-site variant in intron-3 of EMC1 (NM_015047.3:c.287-1G>A). Whole genome sequencing (WGS) identified a deep intronic variant in intron-20 of EMC1 (NM_015047.3:c.2588-771C>G) that was poorly predicted by in silico programs to disrupt pre-mRNA splicing. Reverse Transcription-PCR (RT-PCR) revealed stochastic activation of a pseudo-exon associated with the c.2588-771C>G variant and mis-splicing arising from the c.287-1G>A variant. This case highlights the utility of WGS and RNA studies to identify and assess likely pathogenicity of deep intronic variants and expands the genotypic and phenotypic spectrum of EMC1-related disorders.
    Mesh-Begriff(e) Humans ; RNA Splicing/genetics ; Mutation ; Introns/genetics ; Membrane Proteins/genetics ; Atrophy/genetics
    Chemische Substanzen Membrane Proteins
    Sprache Englisch
    Erscheinungsdatum 2023-02-27
    Erscheinungsland Denmark
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14311
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

    Van Bergen, Nicole J / Gunanayagam, Karen / Bournazos, Adam M / Walvekar, Adhish S / Warmoes, Marc O / Semcesen, Liana N / Lunke, Sebastian / Bommireddipalli, Shobhana / Sikora, Tim / Patraskaki, Myrto / Jones, Dean L / Garza, Denisse / Sebire, Dale / Gooley, Samuel / McLean, Catriona A / Naidoo, Parm / Rajasekaran, Mugil / Stroud, David A / Linster, Carole L /
    Wallis, Mathew / Cooper, Sandra T / Christodoulou, John

    International journal of molecular sciences

    2023  Band 24, Heft 4

    Abstract: We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is ... ...

    Abstract We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease expands and as more cases are identified. Here, we report the oldest known individual succumbing to NAXD-related neurometabolic crisis, at 32 years of age. The clinical deterioration and demise of this individual were likely triggered by mild head trauma. This patient had a novel homozygous
    Mesh-Begriff(e) Adult ; Child ; Child, Preschool ; Humans ; Hydro-Lyases/metabolism ; Mitochondria/metabolism ; NAD/metabolism ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/metabolism ; Proteomics ; Brain Concussion/complications ; Brain Concussion/genetics ; Brain Diseases, Metabolic/etiology ; Brain Diseases, Metabolic/genetics
    Chemische Substanzen Hydro-Lyases (EC 4.2.1.-) ; NAD (0U46U6E8UK) ; NAXD protein, human (EC 4.2.1.93)
    Sprache Englisch
    Erscheinungsdatum 2023-02-10
    Erscheinungsland Switzerland
    Dokumenttyp Case Reports
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms24043582
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Clinical impact of whole-genome sequencing in patients with early-onset dementia.

    Huq, Aamira J / Thompson, Bryony / Bennett, Mark F / Bournazos, Adam / Bommireddipalli, Shobhana / Gorelik, Alexandra / Schultz, Joshua / Sexton, Adrienne / Purvis, Rebecca / West, Kirsty / Cotter, Megan / Valente, Giulia / Hughes, Andrew / Riaz, Moeen / Walsh, Maie / Farrand, Sarah / Loi, Samantha M / Kilpatrick, Trevor / Brodtmann, Amy /
    Darby, David / Eratne, Dhamidhu / Walterfang, Mark / Delatycki, Martin Bruce / Storey, Elsdon / Fahey, Michael / Cooper, Sandra / Lacaze, Paul / Masters, Colin L / Velakoulis, Dennis / Bahlo, Melanie / James, Paul A / Winship, Ingrid

    Journal of neurology, neurosurgery, and psychiatry

    2022  

    Abstract: Background: In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential ...

    Abstract Background: In the clinical setting, identification of the genetic cause in patients with early-onset dementia (EOD) is challenging due to multiple types of genetic tests required to arrive at a diagnosis. Whole-genome sequencing (WGS) has the potential to serve as a single diagnostic platform, due to its superior ability to detect common, rare and structural genetic variation.
    Methods: WGS analysis was performed in 50 patients with EOD. Point mutations, small insertions/deletions, as well as structural variants (SVs) and short tandem repeats (STRs), were analysed. An Alzheimer's disease (AD)-related polygenic risk score (PRS) was calculated in patients with AD.
    Results: Clinical genetic diagnosis was achieved in 7 of 50 (14%) of the patients, with a further 8 patients (16%) found to have established risk factors which may have contributed to their EOD. Two pathogenic variants were identified through SV analysis. No expanded STRs were found in this study cohort, but a blinded analysis with a positive control identified a
    Discussion: WGS acts as a single genetic test to identify different types of clinically relevant genetic variations in patients with EOD. WGS, if used as a first-line clinical diagnostic test, has the potential to increase the diagnostic yield and reduce time to diagnosis for EOD.
    Sprache Englisch
    Erscheinungsdatum 2022-07-29
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2021-328146
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.

    Töpf, Ana / Cox, Dan / Zaharieva, Irina T / Di Leo, Valeria / Sarparanta, Jaakko / Jonson, Per Harald / Sealy, Ian M / Smolnikov, Andrei / White, Richard J / Vihola, Anna / Savarese, Marco / Merteroglu, Munise / Wali, Neha / Laricchia, Kristen M / Venturini, Cristina / Vroling, Bas / Stenton, Sarah L / Cummings, Beryl B / Harris, Elizabeth /
    Marini-Bettolo, Chiara / Diaz-Manera, Jordi / Henderson, Matt / Barresi, Rita / Duff, Jennifer / England, Eleina M / Patrick, Jane / Al-Husayni, Sundos / Biancalana, Valerie / Beggs, Alan H / Bodi, Istvan / Bommireddipalli, Shobhana / Bönnemann, Carsten G / Cairns, Anita / Chiew, Mei-Ting / Claeys, Kristl G / Cooper, Sandra T / Davis, Mark R / Donkervoort, Sandra / Erasmus, Corrie E / Fassad, Mahmoud R / Genetti, Casie A / Grosmann, Carla / Jungbluth, Heinz / Kamsteeg, Erik-Jan / Lornage, Xavière / Löscher, Wolfgang N / Malfatti, Edoardo / Manzur, Adnan / Martí, Pilar / Mongini, Tiziana E / Muelas, Nuria / Nishikawa, Atsuko / O'Donnell-Luria, Anne / Ogonuki, Narumi / O'Grady, Gina L / O'Heir, Emily / Paquay, Stéphanie / Phadke, Rahul / Pletcher, Beth A / Romero, Norma B / Schouten, Meyke / Shah, Snehal / Smuts, Izelle / Sznajer, Yves / Tasca, Giorgio / Taylor, Robert W / Tuite, Allysa / Van den Bergh, Peter / VanNoy, Grace / Voermans, Nicol C / Wanschitz, Julia V / Wraige, Elizabeth / Yoshimura, Kimihiko / Oates, Emily C / Nakagawa, Osamu / Nishino, Ichizo / Laporte, Jocelyn / Vilchez, Juan J / MacArthur, Daniel G / Sarkozy, Anna / Cordell, Heather J / Udd, Bjarne / Busch-Nentwich, Elisabeth M / Muntoni, Francesco / Straub, Volker

    Nature genetics

    2024  Band 56, Heft 3, Seite(n) 395–407

    Abstract: In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants ... ...

    Abstract In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene. The co-occurrence of predicted deleterious SRPK3/TTN variants was not seen among 76,702 healthy male individuals, and statistical modeling strongly supported digenic inheritance as the best-fitting model. Furthermore, double-mutant zebrafish (srpk3
    Mesh-Begriff(e) Animals ; Humans ; Male ; Connectin/genetics ; Connectin/metabolism ; Muscle, Skeletal ; Muscular Diseases/genetics ; Muscular Diseases/metabolism ; Muscular Diseases/pathology ; Mutation ; Zebrafish/genetics
    Chemische Substanzen Connectin ; TTN protein, human
    Sprache Englisch
    Erscheinungsdatum 2024-03-01
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-023-01651-0
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

    Bournazos, Adam M / Riley, Lisa G / Bommireddipalli, Shobhana / Ades, Lesley / Akesson, Lauren S / Al-Shinnag, Mohammad / Alexander, Stephen I / Archibald, Alison D / Balasubramaniam, Shanti / Berman, Yemima / Beshay, Victoria / Boggs, Kirsten / Bojadzieva, Jasmina / Brown, Natasha J / Bryen, Samantha J / Buckley, Michael F / Chong, Belinda / Davis, Mark R / Dawes, Ruebena /
    Delatycki, Martin / Donaldson, Liz / Downie, Lilian / Edwards, Caitlin / Edwards, Matthew / Engel, Amanda / Ewans, Lisa J / Faiz, Fathimath / Fennell, Andrew / Field, Michael / Freckmann, Mary-Louise / Gallacher, Lyndon / Gear, Russell / Goel, Himanshu / Goh, Shuxiang / Goodwin, Linda / Hanna, Bernadette / Harraway, James / Higgins, Megan / Ho, Gladys / Hopper, Bruce K / Horton, Ari E / Hunter, Matthew F / Huq, Aamira J / Josephi-Taylor, Sarah / Joshi, Himanshu / Kirk, Edwin / Krzesinski, Emma / Kumar, Kishore R / Lemckert, Frances / Leventer, Richard J / Lindsey-Temple, Suzanna E / Lunke, Sebastian / Ma, Alan / Macaskill, Steven / Mallawaarachchi, Amali / Marty, Melanie / Marum, Justine E / McCarthy, Hugh J / Menezes, Manoj P / McLean, Alison / Milnes, Di / Mohammad, Shekeeb / Mowat, David / Niaz, Aram / Palmer, Elizabeth E / Patel, Chirag / Patel, Shilpan G / Phelan, Dean / Pinner, Jason R / Rajagopalan, Sulekha / Regan, Matthew / Rodgers, Jonathan / Rodrigues, Miriam / Roxburgh, Richard H / Sachdev, Rani / Roscioli, Tony / Samarasekera, Ruvishani / Sandaradura, Sarah A / Savva, Elena / Schindler, Tim / Shah, Margit / Sinnerbrink, Ingrid B / Smith, Janine M / Smith, Richard J / Springer, Amanda / Stark, Zornitza / Strom, Samuel P / Sue, Carolyn M / Tan, Kenneth / Tan, Tiong Y / Tantsis, Esther / Tchan, Michel C / Thompson, Bryony A / Trainer, Alison H / van Spaendonck-Zwarts, Karin / Walsh, Rebecca / Warwick, Linda / White, Stephanie / White, Susan M / Williams, Mark G / Wilson, Meredith J / Wong, Wui Kwan / Wright, Dale C / Yap, Patrick / Yeung, Alison / Young, Helen / Jones, Kristi J / Bennetts, Bruce / Cooper, Sandra T

    Genetics in medicine : official journal of the American College of Medical Genetics

    2021  Band 24, Heft 1, Seite(n) 130–145

    Abstract: Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics ... ...

    Abstract Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).
    Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.
    Results: Informative RNA assay data were obtained for 96% of cases, enabling variant reclassification for 75% variants that can be used for genetic counseling (71%), to inform clinical care (32%) and prenatal counseling (41%). Variant-associated mis-splicing was highly reproducible for 28 cases with samples from ≥2 affected individuals or heterozygotes and 10 cases with ≥2 biospecimens. PCR amplicons encompassing another segregated heterozygous variant was vital for clinical interpretation of 22 of 79 variants to phase RNA splicing events and discern complete from partial mis-splicing.
    Conclusion: RNA diagnostics enabled provision of a genetic diagnosis for 64% of recruited cases. PCR-based RNA diagnostics has capacity to analyze 81.3% of clinically significant genes, with long amplicons providing an advantage over RNA sequencing to phase RNA splicing events. The Australasian Consortium for RNA Diagnostics (SpliceACORD) provide clinically-endorsed, standardized protocols and recommendations for interpreting RNA assay data.
    Mesh-Begriff(e) Adolescent ; Adult ; Child, Preschool ; Humans ; Mutation ; RNA/genetics ; RNA Splicing/genetics ; Sequence Analysis, RNA ; Whole Exome Sequencing
    Chemische Substanzen RNA (63231-63-0)
    Sprache Englisch
    Erscheinungsdatum 2021-11-30
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1016/j.gim.2021.09.001
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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