Publications by authors named "Mario Cuk"

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Novel c.1303C>T Variant Led to Diagnosis of Intellectual Developmental Disorder with Autism and Speech Delay: Application of Comprehensive Family-Based Whole-Genome Analysis.
Mario Ćuk, Busra Unal, Matea Bagarić, Goran Krakar, McKenzie Walker

Genes (Basel)· January 2025

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Novel Variant in Muscular Dystrophy: Identification by Whole Genome Sequencing and Quad Analysis.
Mario Ćuk, Busra Unal, Luka Lovrenčić, McKenzie Walker, Connor P Hayes

Genes (Basel)· October 2024

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Whole genome joint analysis reveals ATM:C.1564_1565del variant segregating with Ataxia-Telangiectasia and breast cancer.
Mario Ćuk, Busra Unal, Connor P Hayes, McKenzie Walker, Anđela Bevanda

Cancer Genet· August 2024

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Novel :c.2736delC Variant in Smith-Magenis Syndrome: Identification by Whole Genome Sequencing and Joint Analysis.
Mario Cuk, Busra Unal, Nives Jandric, Connor P Hayes, McKenzie Walker

J Pers Med· August 2024

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Novel de Novo Nonsense Variants in AGO3 and KHSRP: Insights into Global Developmental Delay and Autism Spectrum Disorders through Whole Genome Analysis.
Mario Ćuk, Luka Lovrenčić, Busra Unal, McKenzie Walker, Connor P Hayes

Am J Case Rep· July 2024

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Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping.
Mario Cuk, Busra Unal, Andjela Bevanda, Connor P Hayes, McKenzie Walker

Genes (Basel)· July 2024

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Fragility spinal fractures among cirrhotic liver transplant candidates in Croatia.
Andrija Jurina, Valentina Delimar, Zlatko Giljević, Tajana Filipec Kanižaj, Andro Matković

Injury· February 2024

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First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism.
Nenad Koruga, Silvija Pušeljić, Marko Babić, Mario Ćuk, Andrea Cvitković Roić

Children (Basel)· March 2023

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The Therapeutic Hypothermia in Treatment of Hyperammonemic Encephalopathy due to Urea Cycle Disorders and Organic Acidemias.
Dorotea Ninković, Željka Mustapić, Dorotea Bartoniček, Vesna Benjak, Mario Ćuk

Klin Padiatr· March 2019

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ORAI1 mutations abolishing store-operated Ca entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Jayson Lian, Mario Cuk, Sascha Kahlfuss, Lina Kozhaya, Martin Vaeth

J Allergy Clin Immunol· October 2018

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Store-Operated Ca Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism.
Mate Maus, Mario Cuk, Bindi Patel, Jayson Lian, Mireille Ouimet

Cell Metab· March 2017

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Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.
Axel R Concepcion, Martin Vaeth, Larry E Wagner, Miriam Eckstein, Lee Hecht, Mario Cuk

J Clin Invest· November 2016

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Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.
Dorotea Ninković, Vladimir Sarnavka, Anica Bašnec, Mario Ćuk, Danijela Petković Ramadža

J Pediatr Endocrinol Metab· September 2016

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[Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].
Danijela Petković Ramadža, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka

Lijec Vjesn· October 2015

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Respiratory chain deficiency in nonmitochondrial disease.
Angela Pyle, Helen J Nightingale, Helen Griffin, Angela Abicht, Janbernd Kirschner, Mario Cuk

Neurol Genet· June 2015

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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.
Denise Horn, Dagmar Wieczorek, Kay Metcalfe, Ivo Barić, Lidija Paležac, Mario Cuk

Eur J Hum Genet· June 2014

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Plasma biomarker identification in S-adenosylhomocysteine hydrolase deficiency.
Mirela Sedic, Sandra Kraljevic Pavelic, Mario Cindric, Johannes P C Vissers, Marija Peronja, Mario Cuk

Electrophoresis· August 2011

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Functional analysis of human S-adenosylhomocysteine hydrolase isoforms SAHH-2 and SAHH-3.
Ksenija Fumić, Robert Beluzić, Mario Cuk, Tea Pavkov, Doris Kloor

Eur J Hum Genet· March 2007

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A single mutation at Tyr143 of human S-adenosylhomocysteine hydrolase renders the enzyme thermosensitive and affects the oxidation state of bound cofactor nicotinamide-adenine dinucleotide.
Robert Beluzić, Mario Cuk, Tea Pavkov, Ksenija Fumić, Ivo Barić

Biochem J· December 2006

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S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism.
Ivo Baric, Ksenija Fumic, Byron Glenn, Mario Cuk, Andreas Schulze, Mira Scukanec-Spoljar

Proc Natl Acad Sci U S A· March 2004

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Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization.
Ruzica Lasan Trcić, Vlasta Hitrec, Ljiljana Letica, Mario Cuk, Davor Begović

Croat Med J· August 2003

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Use of psychoactive substances among Zagreb University medical students: follow-up study.
Vladimir Trkulja, Zelimir Zivcec, Mario Cuk, Zdravko Lacković

Croat Med J· February 2003

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Ethics in medicine: students' opinions on disclosure of true diagnosis.
Drazen Pulanić, Hrvoje Vrazić, Mario Cuk, Mladen Petrovecki

Croat Med J· February 2002

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