Results 61 to 70 of about 2,524,364 (180)

Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

PLoS ONE, 2023
Background and aimGene defects contribute to the aetiology of intrahepatic cholestasis. We aimed to explore the outcome of whole-exome sequencing (WES) in a cohort of 51 patients with this diagnosis.Patients and methodsBoth paediatric (n = 33) and adult (
Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa   +23 more
doaj   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

Characterizing the Transcriptional Complexity of PKHD1/Pkhd1 [PDF]

, 2012
Mutations in PKHD1 gene cause autosomal recessive polycystic kidney disease. Our previous studies have shown that human PKHD1 and its mouse orthologue, Pkhd1, undergo an extensive pattern of alternative splicing. Pkhd1 is primarily expressed in renal and
Boddu, Ravindra
core  

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

Italian Journal of Pediatrics, 2020
Introduction Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12.
Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro   +8 more
doaj   +1 more source

Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study investigates the impact of complex chromosomal rearrangement (CCR) breakpoints on pediatric developmental delay and epilepsy. By integrating karyotype analysis with WES and/or WGS, we identified an inversion on chromosome 3 likely affecting ROBO1/DNAJC13/ACAD11 in one patient and a complex chromosome 1 rearrangement with a novel KCNA2 ...
Jiaci Li, Wenxuan Fan, Nan Liu, Shuyue Zhang, Ping Wang, Chunyu Gu, Jianbo Shu   +6 more
wiley   +1 more source

Lactoferrin Deficiency During Lactation Causes Adult Obesity‐Related Metabolic Disease Through Persistent Adipose Dysfunction Driven by Impaired Adipocyte Development

Advanced Science, Volume 13, Issue 44, 7 August 2026.
Lactational lactoferrin deficiency exerts lasting effects on epididymal adipose tissue development from lactation into adulthood: it impairs adipocyte hyperplasia and induces pathological hypertrophy, resulting in lower body weight yet exacerbated metabolic dysfunction under a high‐fat diet in adulthood.
Qin An, Yunxia Zou, Wenli Wang, Zhimei Cheng, Zhuoxing Zhang, Ruwei Liu, Xiong Wang, Kunlun Huang, Fangrong Ding, Yunping Dai, Qingyong Meng, Yali Zhang   +11 more
wiley   +1 more source

Mutated Pkhd1 alone is sufficient to cause autoimmune biliary disease on the nonobese diabetic (NOD) genetic background [PDF]

, 2022
We previously reported that nonobese diabetic (NOD) congenic mice (NOD.c3c4 mice) developed an autoimmune biliary disease (ABD) with similarities to human primary biliary cholangitis (PBC), including anti-mitochondrial antibodies and organ-specific ...
Heuer, Luke S., Ridgway, William M., Adams, David E, Adams, David E., Heuer, Luke S, Rojas, Manuel, Zhang, Weici, Ridgway, William M   +7 more
core   +1 more source

Clinicopathological features and genetic variations in patients with polycystic liver disease [PDF]

精准医学杂志
Objective To investigate the clinicopathological features and gene mutation characteristics of patients with polycystic liver disease (PLD). Methods A retrospective analysis was performed for the clinical data of 12 PLD patients who attended Department ...
ZHOU Xueyan, WANG Ye, XING Rui, LI Yixian, HAN Xinyi, ZHAO Peng
doaj   +1 more source

Genomic landscape and evolution of arm aneuploidy in lung adenocarcinoma

Neoplasia: An International Journal for Oncology Research, 2021
For lung adenocarcinoma, arm aneuploidy landscape among primary and metastatic sites, and among different driver and frequently mutated gene groups have not been previously studied.
Beili Gao, Fujun Yang, Ming Han, Hua Bao, Yi Shen, Ran Cao, Xue Wu, Yang Shao, Changhong Liu, Zhe Zhang   +9 more
doaj   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1362-1371, June 2026.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source