Výsledky vyhledávání - "Gijs van Haaften"

Akademický článek

New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)

Autor: Brigitte W. M. Willemse, Saskia N. van der Crabben, Wilhelmina S. Kerstjens-Frederikse, Wim Timens, Joris M. van Montfrans, Caroline A. Lindemans, Jaap Jan Boelens, Marije P. Hennus, Gijs van Haaften

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)

Abstract We report five patients with lung disease immuno-deficiency and chromosome breakage syndrome (LICS) but without recurrent infections and severe immunodeficiency. One patient had extended survival to 6.5 years. Hematopoietic stem-cell transpl

Externí odkaz: https://doaj.org/article/8166af30d2064f568de6a325ebb2fea6

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Akademický článek

Partner independent fusion gene detection by multiplexed CRISPR-Cas9 enrichment and long read nanopore sequencing

Autor: Christina Stangl, Sam de Blank, Ivo Renkens, Liset Westera, Tamara Verbeek, Jose Espejo Valle-Inclan, Rocio Chamorro González, Anton G. Henssen, Markus J. van Roosmalen, Ronald W. Stam, Emile E. Voest, Wigard P. Kloosterman, Gijs van Haaften, Glen R. Monroe

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)

Fusion genes are a hallmarks of cancer, though breakpoint-position promiscuity restricts diagnostic detection. Here, the authors present FUDGE, a CRISPR-Cas9-based enrichment strategy for nanopore sequencing to identify target fusions irrespective of

Externí odkaz: https://doaj.org/article/e33d69e505f647c4a248cf888947cfbb

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Akademický článek

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)

ABCC9 encodes the SUR2 subunit of KATP channels and dominant genetic variants in ABCC9 have been associated with cardiac phenotypes. Here, the authors report recessive ABCC9 mutations in individuals with mild intellectual disability, myopathy and car

Externí odkaz: https://doaj.org/article/3b16521767fb4e02b8c29af4d1962611

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Akademický článek

Identification of human D lactate dehydrogenase deficiency

Publikováno v: Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)

D-lactic acidosis typically occurs in the context of short bowel syndrome; excess D-lactate is produced by intestinal bacteria. Here, the authors identify two point mutations in the human lactate dehydrogenase D (LDHD) gene that cause enzymatic loss

Externí odkaz: https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50

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Akademický článek

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulationResearch in context

Autor: Louise C. Gregory, Carolina B. Ferreira, Sara K. Young-Baird, Hywel J. Williams, Magdalena Harakalova, Gijs van Haaften, Sofia A. Rahman, Carles Gaston-Massuet, Daniel Kelberman, GOSgene, Waseem Qasim, Sally A. Camper, Thomas E. Dever, Pratik Shah, Iain C.A.F. Robinson, Mehul T. Dattani

Publikováno v: EBioMedicine, Vol 42, Iss , Pp 470-480 (2019)

Background: The heterotrimeric GTP-binding protein eIF2 forms a ternary complex with initiator methionyl-tRNA and recruits it to the 40S ribosomal subunit for start codon selection and thereby initiates protein synthesis. Mutations in EIF2S3, encodin

Externí odkaz: https://doaj.org/article/61da4410358e47e8afd4a94b157fdcae

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Akademický článek

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression

Autor: Yuan Ji, Marlieke G. Veldhuis, Jantien Zandvoort, Fee L. Romunde, Marien J. C. Houtman, Karen Duran, Gijs van Haaften, Eva-Maria Zangerl-Plessl, Hiroki Takanari, Anna Stary-Weinzinger, Marcel A. G. van der Heyden

Publikováno v: Journal of Biomedical Science, Vol 24, Iss 1, Pp 1-10 (2017)

Abstract Background The inward rectifier potassium current IK1 contributes to a stable resting membrane potential and phase 3 repolarization of the cardiac action potential. KCNJ2 gain-of-function mutations V93I and D172N associate with increased IK1

Externí odkaz: https://doaj.org/article/efbd78c2599d487c96e896e9cb6f2763

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Akademický článek

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

Autor: Federico Tessadori, Helen I. Roessler, Sanne M. C. Savelberg, Sonja Chocron, Sarah M. Kamel, Karen J. Duran, Mieke M. van Haelst, Gijs van Haaften, Jeroen Bakkers

Publikováno v: Disease Models & Mechanisms, Vol 11, Iss 10 (2018)

The zebrafish (Danio rerio) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic development. The use of genetically modified zebrafish has also allowed identification of

Externí odkaz: https://doaj.org/article/c1b6ebd0a1924861a63a0dcc165445af

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Young adult with Cantú syndrome: dealing with a rare genetic skin disorder

Autor: Mieke M. van Haelst, Helen I. Roessler, Gijs van Haaften

Publikováno v: Roessler, H I, Van Haaften, G & Van Haelst, M M 2021, ' Young adult with Cantú syndrome : Dealing with a rare genetic skin disorder ', BMJ Case Reports, vol. 14, no. 7, e243118 . https://doi.org/10.1136/bcr-2021-243118
BMJ Case Reports, 14(7):e243118. BMJ Publishing Group

This case report of a young adult with Cantú syndrome (CS) illustrates a remarkable journey of learning how to cope with symptom management and emotional impact associated with a rare skin condition. We describe a 20-year-old woman with a CS-related

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66f137d3ece236022c9ee8d30174fb93
https://pubmed.ncbi.nlm.nih.gov/34253519

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