Cargando…

MYH9 nephropathy

MYH9-related disorder is an autosomal dominant disease caused by a mutation in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA). This disease is characterized by giant platelets, thrombocytopenia, granulocyte inclusion bodies, proteinuria, and high-pitch sensorineural deafne...

Descripción completa

Detalles Bibliográficos
Autores principales:	Oh, Taehoon, Jung Seo, Hyun, Taek Lee, Kyu, Jo Kim, Han, Jun Kim, Hwi, Lee, Ji-Hye, Il Cheong, Hae, Young Lee, Eun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570591/ https://www.ncbi.nlm.nih.gov/pubmed/26484020 http://dx.doi.org/10.1016/j.krcp.2014.09.003

Ejemplares similares

Angiotensin II-mediated MYH9 downregulation causes structural and functional podocyte injury in diabetic kidney disease
por: Kang, Jeong Suk, et al.
Publicado: (2019)

A Trp33Arg Mutation at Exon 1 of the MYH9 Gene in a Korean Patient with May-Hegglin Anomaly
por: Jang, Moon Ju, et al.
Publicado: (2012)

Identification of MYH9 as a key regulator for synoviocyte migration and invasion through secretome profiling
por: Lee, Saseong, et al.
Publicado: (2023)

Nonmuscle myosin 2 proteins encoded by Myh9, Myh10, and Myh14 are uniquely distributed in the tubular segments of murine kidney
por: Otterpohl, Karla L., et al.
Publicado: (2017)

A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature
por: Ai, Qi, et al.
Publicado: (2020)

Background Strain and the Differential Susceptibility of Podocyte-Specific Deletion of Myh9 on Murine Models of Experimental Glomerulosclerosis and HIV Nephropathy
por: Johnstone, Duncan B., et al.
Publicado: (2013)

Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy
por: Ren, Pingping, et al.
Publicado: (2021)

Conditional Myh9 and Myh10 inactivation in adult mouse renal epithelium results in progressive kidney disease
por: Otterpohl, Karla L., et al.
Publicado: (2020)

Two cases of idiopathic membranous nephropathy treated with rituximab
por: Young Yoon, Jae, et al.
Publicado: (2013)

Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia
por: Thurlapati, Aswani, et al.
Publicado: (2021)

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines
por: Panza, Emanuele, et al.
Publicado: (2008)

Multiscale analysis of single and double maternal-zygotic Myh9 and Myh10 mutants during mouse preimplantation development
por: Schliffka, Markus Frederik, et al.
Publicado: (2021)

A functional regulatory variant of MYH3 influences muscle fiber-type composition and intramuscular fat content in pigs
por: Cho, In-Cheol, et al.
Publicado: (2019)

Macrothrombocytopenia, renal dysfunction and nephrotic syndrome in a young male patient: a case report of MYH9-related disease
por: Sevignani, Gabriela, et al.
Publicado: (2018)

Hyperuricemia as a marker for progression of immunoglobulin A nephropathy
por: Kim, Su-Ji, et al.
Publicado: (2012)

A case of hemolytic uremic syndrome preceded by intussusception
por: Ko, Eun Young, et al.
Publicado: (2011)

Correction: Multiscale analysis of single and double maternal-zygotic Myh9 and Myh10 mutants during mouse preimplantation development
por: Schliffka, Markus Frederik, et al.
Publicado: (2022)

De novo MYH9 mutation in congenital scalp hemangioma
por: Fomchenko, Elena I., et al.
Publicado: (2018)

Perinatal Management for a Pregnant Woman with an MYH9 Disorder
por: Yamashita, Yuka, et al.
Publicado: (2016)

MYH9 facilitates autoregulation of adipose tissue depot development
por: Cheung, Sin Ying, et al.
Publicado: (2021)

Visualization of the physical and functional interaction between hMYH and hRad9 by Dronpa bimolecular fluorescence complementation
por: Agustina, Lia, et al.
Publicado: (2014)

Higher Incidence of BK Virus Nephropathy in Pediatric Kidney Allograft Recipients with Alport Syndrome
por: Cho, Young Hoon, et al.
Publicado: (2019)

ENKUR recruits FBXW7 to ubiquitinate and degrade MYH9 and further suppress MYH9‐induced deubiquitination of β‐catenin to block gastric cancer metastasis
por: Liu, Jiahao, et al.
Publicado: (2022)

Identification of Novel Biomarker for Early Detection of Diabetic Nephropathy
por: Kim, Kyeong-Seok, et al.
Publicado: (2021)

Immunoglobulin A Nephropathy Associated with Plasmodium falciparum Malaria
por: Yoo, Dong Eun, et al.
Publicado: (2012)

Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease
por: Kim, Il Young, et al.
Publicado: (2021)

Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria
por: Kim, Ji Hyun, et al.
Publicado: (2017)

Surveillance of home environment in children with atopic dermatitis: a questionnaire survey
por: Lee, Jung Hyun, et al.
Publicado: (2012)

Autoimmune hepatitis in a patient with immunoglobulin A nephropathy: A case report
por: Jeon, You Hyun, et al.
Publicado: (2020)

BAFF and APRIL expression as an autoimmune signature of membranous nephropathy
por: Han, Seung Seok, et al.
Publicado: (2017)

Cochlear implantation is safe and effective in patients with MYH9-related disease
por: Pecci, Alessandro, et al.
Publicado: (2014)

MYH9-related disorders display heterogeneous kidney involvement and outcome
por: Tabibzadeh, Nahid, et al.
Publicado: (2018)

Prognostic impact of MYH9 expression on patients with acute myeloid leukemia
por: Yu, Mengxia, et al.
Publicado: (2016)

The MYH9 Cytoskeletal Protein Is a Novel Corepressor of Androgen Receptors
por: Liu, Chunhua, et al.
Publicado: (2021)

MYH9‐related disease: Assessment of the pathogenicity of a new mutation
por: Antoine, Babuty, et al.
Publicado: (2023)

MYH10 Combines with MYH9 to Recruit USP45 by Deubiquitinating Snail and Promotes Serous Ovarian Cancer Carcinogenesis, Progression, and Cisplatin Resistance
por: Liu, Longyang, et al.
Publicado: (2023)

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
por: Bury, Loredana, et al.
Publicado: (2019)

Factors affecting the long-term outcomes of idiopathic membranous nephropathy
por: Huh, Hyuk, et al.
Publicado: (2017)

Optimal Proteinuria Target for Renoprotection in Patients with IgA Nephropathy
por: Nam, Ki Heon, et al.
Publicado: (2014)

Myosin heavy chain-9-related disorders (MYH9-RD): a case report
por: Vassallo, Diana, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_0fvp756nm887bfu1f1q49n5f84