Results 71 to 80 of about 2,901 (167)

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing

Frontiers in Genetics, 2021
Background and Aims: The multiple renal cysts (MRC) occur in some patients with noncirrhotic portal hypertension (NCPH) could be a subset of ciliopathy.
Yanjing Wu, Yongle Wu, Kun Liu, Hui Liu, Shanshan Wang, Jian Huang, Huiguo Ding   +6 more
doaj   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

A Rare Diagnosis of Caroli Syndrome in a Young Patient

Clinical Case Reports, Volume 13, Issue 6, June 2025.
ABSTRACT Caroli syndrome is a rare but serious congenital disorder associated with portal hypertension and polycystic kidney disease. Early diagnosis via imaging, particularly MRCP, is crucial to prevent life‐threatening complications such as cholangitis and biliary cirrhosis.
Elaheh Karimzadeh‐Soureshjani, Farab Pourhasan, Pouria Ahmadi Simab, Sajjad Shojaei, Yasaman Mohammadian   +4 more
wiley   +1 more source

Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) [PDF]

Journal of the American Society of Nephrology, 2003
Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD.
Bergmann, C., Senderek, J., Sedlacek, B., Pegiazoglou, I., Puglia, P., Eggermann, T., Rudnik-Schoneborn, S., Furu, L., Onuchic, L., De Baca, M., Germino, G., Guay-Woodford, L., Somlo, S., Moser, M., Buttner, R., Zerres, K.   +15 more
openaire   +3 more sources

Heart dysfunction in a rat model with autosomal recessive polycystic kidney disease

The Journal of Physiology, Volume 603, Issue 9, Page 2551-2567, 1 May 2025.
Abstract figure legend Our results demonstrate a diastolic dysfunction in animals with severe kidney disease. Moreover, chronic kidney disease (CKD)‐induced heart fibrosis and hypertrophy are associated with a dysregulation of cardiokine signalling in autosomal recessive polycystic kidney disease (ARPKD) animals. Created using BioRender.com.
Nathalie Gayrard, Maëlle Plawecki, Céline Lauret, Marc Fila, Pierre Sicard, Flore Duranton, Juliana H. Boukhaled, Irene Cortijo‐Tejero, Manuela Lotierzo, Bernard Jover, Jean‐Paul Cristol, Fabrice Raynaud   +11 more
wiley   +1 more source

Unwrapping the Ciliary Coat: High‐Resolution Structure and Function of the Ciliary Glycocalyx

Advanced Science, Volume 12, Issue 16, April 24, 2025.
The ciliary membrane is decorated in glycosylated proteins that define the interaction of the cilium with its environment. The main component of the ciliary coat of the green alga Chlamydomonas reinhardtii, FMG1, is characterized by cryo‐electron microscopy, proteomics, and live cell microscopy with flow‐based adhesion assays.
Lara M. Hoepfner, Adrian P. Nievergelt, Fabrizio Matrino, Martin Scholz, Helen E. Foster, Jonathan Rodenfels, Alexander von Appen, Michael Hippler, Gaia Pigino   +8 more
wiley   +1 more source

System genetic analysis of intestinal cancer and periodontitis development as influenced by aging and diabesity using Collaborative Cross mice

Animal Models and Experimental Medicine, Volume 8, Issue 4, Page 758-770, April 2025.
It is increasingly recognized that young, chow‐fed inbred mice poorly model the complexity of human carcinogenesis in multiple respects. In humans, age and adiposity are the major risk factors for the majority of malignancies. Although the development of genetically engineered mouse models (GEMM) of cancer has recapitulated many aspects of human cancer,
Iqbal M. Lone, Osayd Zohud, Kareem Midlej, Charles Brenner, Fuad A. Iraqi   +4 more
wiley   +1 more source

Abernethy malformation associated with Caroli’s syndrome in a patient with a PKHD1 mutation: a case report

Diagnostic Pathology, 2017
Background Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt.
Xiao-xiao Mi, Xiao-guang Li, Zi-rong Wang, Ling Lin, Chun-hai Xu, Jun-ping Shi   +5 more
doaj   +1 more source

#2804 Mechanisms of cAMP-induced cyst formation observed in Pkhd1-KO cells [PDF]

Nephrology Dialysis Transplantation
Abstract Background and Aims Loss of ciliary protein function leads to altered epithelial properties in hereditary polycystic kidney diseases. To address molecular aspects of defective epithelial homeostasis, monolayered epithelial spheroids can be used to analyze lack of protein function and ...
Wolfgang Ziegler, Fatima Hassan, Susanne Hahnenstein, Dieter Haffner   +3 more
openalex   +2 more sources

Identification of clinicopathological‐specific driver gene and genetic subtyping of colorectal cancer

Cancer Science, Volume 116, Issue 4, Page 1068-1081, April 2025.
This study analyzed targeted sequencing of 6530 patients with metastatic Chinese colorectal cancer (CRC), identifying 36 novel driver genes with subgroup‐specific implications, such as ERBB4 affecting only male CRC patient outcomes. Additionally, the study utilized network‐based stratification to categorize microsatellite stable (MSS) and unstable (MSI)
Jianjiong Li, Chunnian Wang, Changshun Yang, Hua Bao, Ningyou Li, Xianqiang Huang, Wei Gong, Xinyue Hong, Jiani C. Yin, Jiaohui Pang, Meifu Gan, Danping Yuan   +11 more
wiley   +1 more source