Results 81 to 90 of about 3,318 (192)

Transcription factor HNF1β and novel partners affect nephrogenesis [PDF]

, 2008
Heterozygous mutations of the tissue-specific transcription factor hepatocyte nuclear factor (HNF)1β, cause maturity onset diabetes of the young (MODY5) and kidney anomalies including agenesis, hypoplasia, dysplasia and cysts.
Bingham, Coralie, Dudziak, Karin, Edghill, Emma L., Ellard, Sian, Mottalebi, Nima, Roose, Magdalena, Rosengarten, Stefan, Ryffel, Gerhart U., Senkel, Sabine   +8 more
core   +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

Metformin does not slow cyst growth in the PCK rat model of polycystic kidney disease

Physiological Reports, 2023
Metformin (MET) has the potential to activate p‐AMPK and block mTORC1‐induced proliferation of tubular cells in PKD kidneys. The aim of this study was to determine the effects of MET on cyst growth, kidney function, AMPK and mTOR signaling, and lactate ...
Ozgur A. Oto, Daniel J. Atwood, Anjana Chaudhary, Zhibin He, Amy S. Li, Michael F. Wempe, Charles L. Edelstein   +6 more
doaj   +1 more source

Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics [PDF]

, 2023
Background: Autosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation.
de Fallois, Jonathan, Halbritter, Jan, Münch, Johannes, Nagel, Mato, Popp, Bernt, Schönauer, Ria   +5 more
core   +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

Identification of the salmonid IL-17A/F1a/b, IL-17A/F2b, IL-17A/F3 and IL-17N genes and analysis of their expression following in vitro stimulation and infection [PDF]

, 2015
Peer ...
Husain, Mansourah, Jiang, Yousheng, Secombes, Christopher J., Wang, Alex, Wang, Tiehui, Xu, Qiaoqing   +5 more
core   +1 more source

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

Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies

Developmental Medicine &Child Neurology, Volume 67, Issue 4, Page 463-474, April 2025.
This original article is commented by Fogel on pages 422–423 of this issue. Abstract Aim To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. Method A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of ...
Stephanie Libzon, Michal Gafner, Dorit Lev, Nilly Waiserberg, Liat Gindes, Zvi Leibovitz, Liat Ben‐Sira, Tally Lerman‐Sagie   +7 more
wiley   +1 more source

Type IV choledochal cyst with polycystic kidney disease: a case report

BMC Gastroenterology, 2020
Background Choledochal cysts are divided into 5 types. Physicians believe that Caroli disease (which refers to type V biliary cysts) is a special type of biliary cyst caused by a mutation in the PKHD1 gene and is associated with autosomal recessive ...
Yuxin He, Zhuwen Yu, Weichang Chen
doaj   +1 more source

Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases [PDF]

, 2014
Autosomal recessive polycystic kidney disease (ARPKD) is a severe, typically early onset form of renal cystic disease. The care of ARPKD patients has traditionally been the purview of pediatric nephrologists for management of systemic hypertension and ...
Guay-Woodford, Lisa
core   +2 more sources