Cargando…

TSC2/PKD1 contiguous deletion syndrome in a pregnant woman: A case report

TSC2/PKD1 contiguous gene deletion syndrome is a disease caused by the deletions of the TSC2 and PKD1 genes. This is a rare contiguous genomic disease with clinical manifestations of tuberous sclerosis and polycystic kidney disease. To our knowledge, this case report is the first known case of TSC2/...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Shaofang, Xu, Kangxiang, Xu, Yuqi, Zhao, Lu, He, Xiaoju
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9988899/ https://www.ncbi.nlm.nih.gov/pubmed/36895714 http://dx.doi.org/10.3389/fmed.2023.1101079

Ejemplares similares

Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
por: Osumi, Keita, et al.
Publicado: (2020)

The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome—Case Series
por: Orosz, Petronella, et al.
Publicado: (2023)

Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated
por: Cabrera-López, Cristina, et al.
Publicado: (2015)

Single Gene Mutations in Pkd1 or Tsc2 Alter Extracellular Vesicle Production and Trafficking
por: Kumar, Prashant, et al.
Publicado: (2022)

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5
por: Zhou, Xi, et al.
Publicado: (2021)

Pregnant woman with proptosis
por: Ufkes, Patrick, et al.
Publicado: (2020)

Hypomyelination following deletion of Tsc2 in oligodendrocyte precursors
por: Carson, Robert P., et al.
Publicado: (2015)

Unusual presentation of Kallmannn syndrome with contiguous gene deletion in three siblings of a family
por: Madhu, Sri Venkat, et al.
Publicado: (2012)

Development of Immunoglobulin M Nephropathy in a Pregnant Woman
por: Uludag, Koray, et al.
Publicado: (2021)

Case report: Successful thromboprophylaxis with enoxaparin in a pregnant woman with internal jugular vein agenesis
por: Di Micco, Pierpaolo, et al.
Publicado: (2022)

A Pregnant Woman with Spina Bifida: Need for a Multidisciplinary Labor Plan
por: O’Neal, Mary Angela
Publicado: (2017)

The TSC1-TSC2 complex consists of multiple TSC1 and TSC2 subunits
por: Hoogeveen-Westerveld, Marianne, et al.
Publicado: (2012)

Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review
por: Watkins, Casey E, et al.
Publicado: (2011)

Neurogenin 3–Directed Cre Deletion of Tsc1 Gene Causes Pancreatic Acinar Carcinoma()()
por: Ding, Li, et al.
Publicado: (2014)

Pkd1 and Pkd2 Are Required for Normal Placental Development
por: Garcia-Gonzalez, Miguel A., et al.
Publicado: (2010)

Non-contiguous Rare Presentation of Spinal Tuberculosis: A Case Report
por: Binsaeedu, Abdullah S, et al.
Publicado: (2023)

Unusual Combination of MEN-1 and the Contiguous Gene Deletion Syndrome of CAH and Ehlers-Danlos Syndrome (CAH-X)
por: Chen Cardenas, Stanley M, et al.
Publicado: (2020)

Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
por: Liu, Bei, et al.
Publicado: (2015)

A Rare Phenomenon of Stercoral Ileal Perforation in a Pregnant Woman
por: Das, Snehasis, et al.
Publicado: (2023)

A rare case of non-contiguous multifocal spinal tuberculosis
por: Abboud, Hilal, et al.
Publicado: (2017)

Corrigendum: Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease
por: Liu, Bei, et al.
Publicado: (2016)

Osteoblast-Specific Deletion of Pkd2 Leads to Low-Turnover Osteopenia and Reduced Bone Marrow Adiposity
por: Xiao, Zhousheng, et al.
Publicado: (2014)

Predictors of Lesions Contiguity and Transmurality in Canine Ventricular Models After Catheter Ablation
por: El Hajjar, Abdel Hadi, et al.
Publicado: (2022)

PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion
por: Watanabe, Saki, et al.
Publicado: (2019)

High Resolution Melt analysis for mutation screening in PKD1 and PKD2
por: Bataille, Stanislas, et al.
Publicado: (2011)

Is This Woman Pregnant?
por: Battey, Robert
Publicado: (1873)

Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease
por: Zhuang, Jing, et al.
Publicado: (2023)

Arrhythmogenic Hearts in PKD2 Mutant Mice Are Characterized by Cardiac Fibrosis, Systolic, and Diastolic Dysfunctions
por: Amirrad, Farideh, et al.
Publicado: (2021)

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
por: Smetana, Jan, et al.
Publicado: (2021)

Metformin effectively treats Tsc1 deletion-caused kidney pathology by upregulating AMPK phosphorylation
por: Fang, Yili, et al.
Publicado: (2020)

A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease
por: Seck, Sidy Mohamed, et al.
Publicado: (2013)

Apple Watch-guided diagnosis of AVNRT in a pregnant woman—A case report and literature review
por: Hawryszko, Maja, et al.
Publicado: (2022)

p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis
por: Li, Haili, et al.
Publicado: (2019)

Simultaneous non-contiguous deletions using large synthetic DNA and site-specific recombinases
por: Krishnakumar, Radha, et al.
Publicado: (2014)

High-Dose Corticosteroids for a Pregnant Woman Critically Ill With Coronavirus Disease 2019
por: Yamamoto, Koichiro, et al.
Publicado: (2021)

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
por: Strunk, Daniela, et al.
Publicado: (2016)

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)
por: Liu, Jie, et al.
Publicado: (2019)

A Conditional Knockout Mouse Model Reveals a Critical Role of PKD1 in Osteoblast Differentiation and Bone Development
por: Li, Shao, et al.
Publicado: (2017)

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease
por: Vouk, Katja, et al.
Publicado: (2006)

The Tired Pregnant Woman
por: VanNatta, Katie, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_bdci8lf5pb4pqqd8aubadn8orb