Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization

Autor: Claudine W.B. Ruijmbeek, Filomena Housley, Hafiza Idrees, Michael P. Housley, Jenny Pestel, Leonie Keller, Jason K.H. Lai, Herma C. van der Linde, Rob Willemsen, Janett Piesker, Zuhair N. Al-Hassnan, Abdulrahman Almesned, Michiel Dalinghaus, Lisa M. van den Bersselaar, Marjon A. van Slegtenhorst, Federico Tessadori, Jeroen Bakkers, Tjakko J. van Ham, Didier Y.R. Stainier, Judith M.A. Verhagen, Sven Reischauer

Publikováno v: JCI Insight, Vol 8, Iss 17 (2023)

Pediatric cardiomyopathy (CM) represents a group of rare, severe disorders that affect the myocardium. To date, the etiology and mechanisms underlying pediatric CM are incompletely understood, hampering accurate diagnosis and individualized therapy d

Externí odkaz: https://doaj.org/article/aaf41c458d6d4f209cf123eaa660ce8c

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Autor: Abdulrahman Almesned, Dorien Schepers, Mehran Beiraghi Toosi, Zuhair N. Al-Hassnan, Jill A. Rosenfeld, Erin M. Miller, Hassan Mottaghi Moghaddam Shahri, Maaike Alaerts, Melanie Perik, Desiderio Rodrigues, Aline Verstraeten, Reza Maroofian, Silke Peeters, Cédric H. G. Neutel, Ilse Luyckx, Nicole Revencu, Jenny C. Taylor, Jarl Bastianen, Isabel Pintelon, Henry Houlden, Matteo P. Ferla, Erik Fransen, Kayal Vijayakumar, Lut Van Laer, Anthony R. Dallosso, Mandy Vermont, Isabelle Maystadt, Lotte Van Den Heuvel, Thierry Sluysmans, David Murphy, K. Nicole Weaver, Paria Najarzadeh Torbati, Jotte Rodrigues Bento, Amber Begtrup, Maggie Williams, Ilse Van Gucht, Maaike Bastiaansen, Ashish Chikermane, Gangadhara Bharmappanavara, Alistair T. Pagnamenta, Bart Loeys, Joe Davis Velchev, Julie Evans, Josephina A.N. Meester, Narges Hashemi, Julie Vogt, Pieter-Jan Guns

Publikováno v: The American Journal of Human Genetics
American Journal of Human Genetics, 108, 1115-1125
American Journal of Human Genetics, 108, 6, pp. 1115-1125
Am J Hum Genet
The American journal of human genetics

Importin 8, encoded by IPO8, is a ubiquitously expressed member of the importin-beta protein family that translocates cargo molecules such as proteins, RNAs, and ribonucleoprotein complexes into the nucleus in a RanGTP-dependent manner. Current knowl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b24e6c0679dae811ef67aedbd6e7ffa5
https://doi.org/10.1016/j.ajhg.2021.04.019

Catheter Closure of Clinically Silent Patent Ductus Arteriosus Using the Amplatzer Duct Occluder II-Additional Size: A Single-Center Experience

Autor: Ali A. Al Akhfash, Yasser A Bhat, Abdulrahman Almesned, Abdullah Alqwaee

Publikováno v: Cureus

Objectives Transcatheter closure is the treatment of choice for most patent ductus arteriosus (PDA) in infants, children, and adults. However, there is a controversy regarding transcatheter closure of clinically silent PDAs. Some authors favor device

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b175ffa6a133b73a678e466b7adc172e
https://pubmed.ncbi.nlm.nih.gov/34589368

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review

Autor: Abdullah Alqwaiee, Zuhair N. Al-Hassnan, Ali A Alakhfash, Abdulrahman Almesned

Publikováno v: European Heart Journal: Case Reports

Background Pulmonary arteriovenous malformations (PAVMs) are rare pulmonary vascular anomalies. They can result in right-to-left shunt and, if significant, low systemic saturation, cyanosis, polycythaemia, and paradoxical systemic embolization. Case

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23c3adbf65e557387bd8ff2edc726c7e
https://doi.org/10.1093/ehjcr/ytab261

Pulmonary hypertension associated with congenital heart disease; clinical decision scenario

Autor: Ali A. Al-Akhfash, Ghadeer Ali Alakhfash, Abdullah Alqwaiee, Athkar Alhajjaj, Abdulrahman Almesned

Publikováno v: Respiratory Medicine Case Reports, Vol 31, Iss, Pp 101286-(2020)
Respiratory Medicine Case Reports

Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is one type under group 1 PH. Undiagnosed or delayed diagnosis of significant CHD might lead to significant PAH and at the end might lead to Eisenmenger syndrome. We c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab33dad34887eade0c2e842b21d970b2
http://www.sciencedirect.com/science/article/pii/S2213007120305001