Results 51 to 60 of about 2,901 (167)

Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman

BMC Nephrology, 2020
Background There is a high prevalence of rare genetic disorders in the Middle East, and their study provides unique clinical and genetic insights. Autosomal recessive polycystic kidney disease (ARPKD) is one of the leading causes of kidney and liver ...
Intisar Al Alawi, Elisa Molinari, Issa Al Salmi, Fatma Al Rahbi, Adhra Al Mawali, John A. Sayer   +5 more
doaj   +1 more source

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review

BMC Pregnancy and Childbirth, 2021
Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Xiuzhen Yao, Weiqun Ao, Jianhua Fang, Guoqun Mao, Chuanghua Chen, Lifang Yu, Huaijie Cai, Chenke Xu   +7 more
doaj   +1 more source

Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene [PDF]

Journal of the American Society of Nephrology, 2002
PKHD1, the gene mutated in human autosomal recessive polycystic kidney disease has recently been identified. Its translation products are predicted to belong to a superfamily of proteins involved in the regulation of cellular adhesion and repulsion. One notable aspect of the gene is its unusually complex pattern of splicing. This study shows that mouse
Nagasawa, Y., Matthiesen, S., Onuchic, L., Hou, X., Bergmann, C., Esquivel, E., Senderek, J., Ren, Z., Zeltner, R., Furu, L., Avner, E., Moser, M., Somlo, S., Guay-Woodford, L., Buttner, R., Zerres, K., Germino, G.   +16 more
openaire   +3 more sources

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Tissue-specific regulation of the mousePkhd1(ARPKD) gene promoter

American Journal of Physiology-Renal Physiology, 2014
Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 ( PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated.
Scott S, Williams, Patricia, Cobo-Stark, Sachin, Hajarnis, Karam, Aboudehen, Xinli, Shao, James A, Richardson, Vishal, Patel, Peter, Igarashi   +7 more
openaire   +3 more sources

Generation of induced pluripotent stem cells from peripheral blood mononuclear cells obtained from an adult with autosomal recessive polycystic kidney disease

Stem Cell Research, 2022
Autosomal recessive polycystic kidney disease is a hereditary fibrocystic disease that involves the kidneys and biliary tract. Its major histological presentations are the fusiform dilatation of renal collecting ducts and the malformation of the ...
Mingyang Sun, Jian Li, Shunlai Shang, Xueyuan Bai, Guangyan Cai, Qinggang Li   +5 more
doaj   +1 more source

Molecular Characteristics and Treatment Implications of TP53 Gain‐of‐Function Mutations in Non‐Small Cell Lung Cancer

Cancer Medicine, Volume 14, Issue 20, October 2025.
ABSTRACT Background TP53 gain‐of‐function (GOF) effects lead to cellular responses beyond the capabilities of wild‐type TP53 and are known to promote cancer progression, resulting in poorer outcomes in cancer. Methods A total of 486 patients diagnosed with non‐small cell lung cancer (NSCLC) with baseline DNA sequencing data were enrolled in our study ...
Zheng Zhao, Rui Lu, Feng Zhang, Hanlin Chen, Qiuxiang Ou, Xiaotian Zhao, Xinyue Hong, Hua Bao, Degan Lu, Jie Min   +9 more
wiley   +1 more source

Sirenomelia in Twin IVF Pregnancy: A Rare Case Report

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Sirenomelia is a rare and fatal anomaly. It typically manifests as a partial or complete fusion of the lower limbs, along with genitourinary and pulmonary malformations. In the case of twin pregnancies, the occurrence is extremely low.
Maryam Shokouhi, Amir Mohammad Salehi, Behnaz Basiri, Hanieh Talebi   +3 more
wiley   +1 more source

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Case Reports in Genetics, 2014
We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid ...
Pankaj Thakur, Paul Speer, Aleksandar Rajkovic   +2 more
doaj   +1 more source

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

Pediatric Nephrology, 2013
Genetic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is challenging due to the length and allelic heterogeneity of the PKHD1 gene. Mutations appear to be clustered at specific exons, depending on the geographic origin of the patient.
Krall, P, Pineda, C, Ruiz, P, Ejarque, L, Vendrell, T, Camacho, JA, Mendizabal, S, Oliver, A, Ballarin, J, Torra, R, Ars, E   +10 more
openaire   +4 more sources