Results 41 to 50 of about 656,619 (173)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Multiorgan mRNA misexpression in murine autosomal recessive polycystic kidney disease [PDF]

, 2002
Multiorgan mRNA misexpression in murine autosomal recessive polycystic kidney disease.BackgroundBALB/c mice homozygous for the cpk mutation develop a form of polycystic kidney disease (PKD) with multiorgan pathology similar to human autosomal recessive ...
Klein, Robert M., Trambaugh, Chad M., Gattone, Vincent H., Ricker, Justin L.   +3 more
core   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich, Samia Darouich, Ahmed Khemiri, Dorsaf Gtari, Raoudha Smiti, Ahmed Nhili, Houda Bellamine   +6 more
wiley   +1 more source

Rapidly Progressive Glomerulonephritis in Autosomal Dominant Polycystic Kidney Disease

, 2015
Patients with autosomal dominant polycystic kidney disease (ADPKD) can suffer from the same causes of acute kidney injury as the general population. Affected individuals may present with hematuria and proteinuria (usually less than 1g/day).

core   +1 more source

Exploring the Spectrum of Kidney Ciliopathies

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai, Camillo Porta   +7 more
doaj   +1 more source

Liver Organoids: From Disease Modelling to Regenerative Medicine

Cell Proliferation, EarlyView.
Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang, Xiaotian Qu, Jinhong Si, Junkang Meng, Ting Zhang, Shuliang Niu   +5 more
wiley   +1 more source

Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease

, 2021
Objective To identify prenatal, perinatal, and postnatal risk factors for dialysis within the first year of life in children with autosomal recessive polycystic kidney disease (ARPKD) as a basis for parental counseling after prenatal and perinatal ...
BURGMAIER, Mathias, BURGMAIER, Kathrin, MEKAHLI, Djalila, PAPE, Lars, KUNZMANN, Kevin, Jankauskiene, Augustina, TARANTA-JANUSZ, Katarzyna, SOLIMAN, Neveen A., BUESCHER, Anja Katrin, ARICETA, Gema, Shroff, Rukshana, STANCZYK, Malgorzata, HOOMAN, Nakysa, TESTA, Sara, DÜZOVA, ALİ, THUMFART, Julia, Topaloglu, Rezan, Stabouli, Stella, DOETSCH, Joerg, SCHILD, Raphael, KOENIG, Jens, WUEHL, Elke, WYGODA, Simone, WICHER, Dorota, Gokce, Ibrahim, MASSELLA, Laura, ZACHWIEJA, Katarzyna, Melek, Engin, GOEBEL, Heike, RANCHIN, Bruno, GALIANO, Matthias, LITWIN, Mieczyslaw, WEBER, Lutz Thorsten, EID, Loai, DURSUN, İSMAİL, BERGMANN, Carsten, HAFFNER, Dieter, ERGER, Florian, ZERRES, Klaus, HOPPE, Bernd, GESSNER, Michaela, LIEBAU, Max Christoph, KLAUS, Guenter, Mir, Sevgi, Yilmaz, Alev, FELDKOETTER, Markus, Sever, Late, ZAGOZDZON, Ilona, SCHAEFER, Franz, Tabel, Yilmaz, SEEMAN, Tomas, PRIKHODINA, Larisa   +51 more
core   +1 more source

Maternal protein restriction programs the ageing kidney: Proteomic signatures of early‐life origin renal and metabolic dysfunction

The Journal of Physiology, EarlyView.
Abstract figure legend Maternal protein restriction (MPR) induced persistent renal histopathological alterations accompanied by elevated serum creatinine levels. Nephron‐segment proteomic analysis revealed region‐specific molecular dysregulation affecting Bowman's capsule (PARK7, oxidative stress sensor; MSN, cytoskeletal organization), the proximal ...
Marina Pereira Pires, Matheus Naia Fioretto, Marcel Rodrigues Ferreira, Isabelle Tenori Ribeiro, Luísa Annibal Barata, Flávia Alessandra Maciel, Lucas Sobrinho Lemos, Renato Mattos, Luiz Marcos Frediane Portela, Patrick Vieira de Souza, Luisa Correia Gomes, Gustavo Monezzi Cordeiro, Wellerson Rodrigo Scarano, Patrícia Aline Boer, Jose Antonio Rocha Gontijo, Luis Antonio Justulin   +15 more
wiley   +1 more source

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review

Clinics and Practice, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is often associated with hepatobiliary disease in the form of hepatic fibrosis and/or Caroli disease.
Ratna Acharya, Kiran Upadhyay
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source