Cargando…

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

BACKGROUND: The nuclear encoded gene RMND1 (Required for Meiotic Nuclear Division 1 homolog) has recently been linked to RMND1‐related mitochondrial disease (RRMD). This autosomal recessive condition characteristically presents with an infantile‐onset multisystem disease characterized by severe hypo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Shayota, Brian J., Le, Nhon T., Bekheirnia, Nasim, Rosenfeld, Jill A., Goldstein, Amy C., Moritz, Michael, Bartholomew, Dennis W., Pastore, Matthew T., Xia, Fan, Eng, Christine, Yang, Yaping, Lamb, Dolores J., Scaglia, Fernando, Braun, Michael C., Bekheirnia, Mir Reza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900359/ https://www.ncbi.nlm.nih.gov/pubmed/31568715 http://dx.doi.org/10.1002/mgg3.973

Ejemplares similares

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
por: Blackburn, Alexandria T.M., et al.
Publicado: (2019)

Lupus Nephritis, Autoantibody Production and Kidney Outcomes in Males with Childhood-Onset Systemic Lupus Erythematosus
por: Wenderfer, Scott E., et al.
Publicado: (2022)

Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report
por: Alge, Joseph L., et al.
Publicado: (2017)

Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes
por: Yu, Seyoung, et al.
Publicado: (2023)

Developments in the management of autosomal dominant polycystic kidney disease
por: Masoumi, Amirali, et al.
Publicado: (2008)

Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease
por: Kömhoff, Martin, et al.
Publicado: (2023)

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease
por: Ng, Yi Shiau, et al.
Publicado: (2016)

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene
por: Bekheirnia, Mir Reza, et al.
Publicado: (2016)

The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications
por: Rioux, Alexis V., et al.
Publicado: (2023)

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features
por: Webster, Emily, et al.
Publicado: (2016)

Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement
por: Oziębło, Dominika, et al.
Publicado: (2020)

Metabolic and endocrinologic complications in beta-thalassemia major: a multicenter study in Tehran
por: Shamshirsaz, Alireza Abdollah, et al.
Publicado: (2003)

Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation
por: Woo, Young Min, et al.
Publicado: (2019)

Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phenotype
por: Rossetti, Linda Z., et al.
Publicado: (2020)

RMND5 from Xenopus laevis Is an E3 Ubiquitin-Ligase and Functions in Early Embryonic Forebrain Development
por: Pfirrmann, Thorsten, et al.
Publicado: (2015)

miR-590-5p targets RMND5A and promotes migration in pancreatic adenocarcinoma cell lines
por: Chen, Sixing, et al.
Publicado: (2021)

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report
por: Gupta, Asheeta, et al.
Publicado: (2016)

The role of hemodialysis machines dedication in reducing Hepatitis C transmission in the dialysis setting in Iran: A multicenter prospective interventional study
por: Shamshirsaz, Alireza Abdollah, et al.
Publicado: (2004)

MiR-138 downregulates miRNA processing in HeLa cells by targeting RMND5A and decreasing Exportin-5 stability
por: Li, Jie, et al.
Publicado: (2014)

A Pilot Genome-Wide Association Study in Postmenopausal Mexican-Mestizo Women Implicates the RMND1/CCDC170 Locus Is Associated with Bone Mineral Density
por: Villalobos-Comparán, Marisela, et al.
Publicado: (2017)

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects
por: Gaboon, Nagwa E.A., et al.
Publicado: (2020)

The transcription factor Maz is essential for normal eye development
por: Medina-Martinez, Olga, et al.
Publicado: (2020)

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
por: Luo, Xi, et al.
Publicado: (2017)

Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women.
por: McBride, Kim L, et al.
Publicado: (2019)

Endometrial thickness and uterine artery Doppler parameters as soft markers for prediction of endometrial cancer in postmenopausal bleeding women: a cross-sectional study at tertiary referral hospitals from Vietnam
por: Nguyen, Phuc Nhon, et al.
Publicado: (2022)

Evaluating Clinical Features in Intracavitary Uterine Pathologies among Vietnamese Women Presenting with Peri-and Postmenopausal Bleeding: A Bicentric Observational Descriptive Analysis
por: Nguyen, Phuc Nhon, et al.
Publicado: (2022)

Combination of B-Mode Ultrasound and Doppler Ultrasound in Approaching to Uterine Intracavitary Pathologies Among Women Above 40 Years with Abnormal Uterine Bleeding: A Multicenter-Based Study from Vietnam
por: Nguyen, Phuc Nhon, et al.
Publicado: (2022)

An approach that someday may boost testosterone biosynthesis in males with late-onset hypogonadism (low testosterone)
por: Lamb, Dolores J.
Publicado: (2019)

What’s in a (Sub)strain?
por: Goldstein, Jill M., et al.
Publicado: (2018)

Umbilical Cord Hematoma and Uterine Torsion: Rare Pregnancy Complications at Tu Du Hospital in Vietnam and Review of Literature
por: Vuong, Anh Dinh Bao, et al.
Publicado: (2022)

Economía internacional : aspectos reales /
por: Ossa Scaglia, Fernando
Publicado: (2002)

Economía monetaria internacional
por: Ossa Scaglia, Fernando
Publicado: (1999)

PathwayMatrix: visualizing binary relationships between proteins in biological pathways
por: Dang, Tuan Nhon, et al.
Publicado: (2015)

A comprehensive review of the sinuvertebral nerve with clinical applications
por: Shayota, Brian, et al.
Publicado: (2019)

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy
por: Kurzlechner, Leonie M., et al.
Publicado: (2022)

Frontiers in sperm function testing: DNA fragmentation analysis shows promise
por: Herati, Amin S., et al.
Publicado: (2017)

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy‐associated genes among children undergoing exome sequencing reflect healthy population variation
por: Headrick, Andrew T., et al.
Publicado: (2019)

Timely Laparoscopic Intervention for Ovarian Tumor-related Autoimmune Encephalitis: A Challenging Pathology at Tu Du Hospital in Vietnam and Literature Review
por: Pham, Thanh Hai, et al.
Publicado: (2023)

Retroperitoneal ectopic pregnancy: successful expectant management in condition of early pregnancy failure
por: Le, Diep Ngoc, et al.
Publicado: (2023)

Updates in Sertoli Cell-Mediated Signaling During Spermatogenesis and Advances in Restoring Sertoli Cell Function
por: Ruthig, Victor A., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_flpdlou4cj917hnje0gl95e21c