Cargando…

A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is a primary disorder of the cardiac muscle, characterized by dilatation of the left ventricle and contractile dysfunction. About 50% of DCM cases can be attributed to monogenic causes, whereas the etiology in the remaining patients remains unexplained. We report a famil...

Descripción completa

Detalles Bibliográficos
Autores principales:	Maver, Aleš, Žigman, Tamara, Rangrez, Ashraf Yusuf, Ćorić, Marijana, Homolak, Jan, Šarić, Dalibor, Škifić, Iva, Udovičić, Mario, Zekušić, Marija, Saleem, Umber, Laufer, Sandra D., Hansen, Arne, Frey, Norbert, Barić, Ivo, Peterlin, Borut
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528970/ https://www.ncbi.nlm.nih.gov/pubmed/35840178 http://dx.doi.org/10.1101/mcs.a006221

Ejemplares similares

Biallelic ATOH1 Gene Variant in Siblings With Pontocerebellar Hypoplasia, Developmental Delay, and Hearing Loss
por: Višnjar, Tanja, et al.
Publicado: (2022)

Reading a Good Transcript Soothes MYZAPed Heart
por: Robinson, Emma L., et al.
Publicado: (2023)

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database
por: Hočevar, Keli, et al.
Publicado: (2019)

Whole-Genome Sequencing in Diagnostics of Selected Slovenian Undiagnosed Patients with Rare Disorders
por: Bergant, Gaber, et al.
Publicado: (2021)

Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation
por: Thorolfsdottir, Rosa B., et al.
Publicado: (2018)

DNA Methylation Profiles in Whole Blood of Huntington's Disease Patients
por: Zadel, Maja, et al.
Publicado: (2018)

Improving diagnostics of rare genetic diseases with NGS approaches
por: Vinkšel, Mateja, et al.
Publicado: (2021)

Assessment of pathogenic variation in gynecologic cancer genes in a national cohort
por: Kotnik, Urška, et al.
Publicado: (2023)

Vaginal Microbiome Signature Is Associated With Spontaneous Preterm Delivery
por: Hočevar, Keli, et al.
Publicado: (2019)

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
por: Heliö, Krista, et al.
Publicado: (2021)

Integration of Data from Omic Studies with the Literature-Based Discovery towards Identification of Novel Treatments for Neovascularization in Diabetic Retinopathy
por: Maver, Ales, et al.
Publicado: (2013)

Oral microbiome and preterm birth
por: Vidmar Šimic, Marijana, et al.
Publicado: (2023)

Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21
por: Volk, Marija, et al.
Publicado: (2013)

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21
por: Volk, Marija, et al.
Publicado: (2017)

Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder
por: Writzl, Karin, et al.
Publicado: (2023)

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss
por: Likar, Tina, et al.
Publicado: (2018)

Transcriptomic signatures for human male infertility
por: Hodžić, Alenka, et al.
Publicado: (2023)

Loss of YTHDF2 Alters the Expression of m(6)A-Modified Myzap and Causes Adverse Cardiac Remodeling
por: Golubeva, Volha A., et al.
Publicado: (2023)

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre
por: Babić Božović, Ivana, et al.
Publicado: (2021)

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants
por: Johnston, Jennifer J., et al.
Publicado: (2018)

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy
por: Koskenvuo, Juha W., et al.
Publicado: (2021)

Genetic Variation in Circadian Rhythm Genes CLOCK and ARNTL as Risk Factor for Male Infertility
por: Hodžić, Alenka, et al.
Publicado: (2013)

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the OAT gene: a case report
por: Zekušić, Marija, et al.
Publicado: (2018)

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
por: Hufendiek, Karsten, et al.
Publicado: (2020)

Genetic variation in leptin and leptin receptor genes is a risk factor for idiopathic recurrent spontaneous abortion
por: Müller, Andrijana, et al.
Publicado: (2016)

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes
por: Vidmar, Lovro, et al.
Publicado: (2019)

MON-220 Androstendione Affects Endometrial Gene Expression Profile During Window of Implantation in Obese Infertile Women with PCOS
por: Jensterle Sever, Mojca, et al.
Publicado: (2019)

Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
por: Yang, Neng, et al.
Publicado: (2020)

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5
por: Rajan, Deepa S., et al.
Publicado: (2022)

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
por: Leonardis, Lea, et al.
Publicado: (2022)

Expression of Markers of Endometrial Receptivity in Obese Infertile PCOS Women before and after the Weight Loss Program—A Preliminary Study
por: Bergant, Gaber, et al.
Publicado: (2022)

Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the RPGR-ORF15
por: Hadalin, Vlasta, et al.
Publicado: (2021)

Novel recessive PDZD7 biallelic mutations in two Chinese families with non‐syndromic hearing loss
por: Guan, Jing, et al.
Publicado: (2017)

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
por: Mendoza-Ferreira, Natalia, et al.
Publicado: (2018)

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder
por: Mattioli, Francesca, et al.
Publicado: (2021)

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
por: Nair, Divya, et al.
Publicado: (2021)

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
por: Nair, Divya, et al.
Publicado: (2022)

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
por: Van de Sompele, Stijn, et al.
Publicado: (2018)

Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
por: Nguyen, Amie, et al.
Publicado: (2023)

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study
por: Peterlin, Borut, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_qo57urams8q0ankg6hfmcadqp3