Results 101 to 110 of about 3,539,187 (313)

The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations

, 2018
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the ...
Robert C. Albright, Senum, Sarah R., Harris, Peter C., Brendan C. Lanpher, Torres, Vicente E., Kyongtae T. Bae, Lanpher, Brendan C., Cornec-Le Gall, Emilie, Theodore I. Steinman, Steinman, Theodore I., Perrone, Ronald D., William E. Braun, Bae, Kyongtae T., Peter C. Harris, Schrier, Robert W., Chebib, Fouad T., Charles D. Madsen, Alan S. Yu, Marc C. Patterson, Vicente E. Torres, Ronald D. Perrone, Madsen, Charles D., Chapman, Arlene B., Patterson, Marc C., Abebe, Kaleab Z., Christina M. Heyer, Heyer, Christina M., Braun, William E., Kaleab Z. Abebe, Robert W. Schrier, Albright, Robert C., Sarah R. Senum, Yu, Alan S., Arlene B. Chapman, Emilie Cornec-Le Gall, Fouad T. Chebib   +35 more
core   +1 more source

Understanding autoimmune response after SARS-CoV-2 infection and the pathogenesis/mechanisms of long COVID

Medical Review
COVID-19 posed a major challenge to the healthcare system and resources worldwide. The popularization of vaccines and the adoption of numerous prevention and control measures enabled the gradual end of the COVID-19 pandemic.
Guo Ming, Shang Shunlai, Li Mengfei, Cai Guangyan, Li Ping, Chen Xiangmei, Li Qinggang   +6 more
doaj   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

Glutaminolysis is a Potential Therapeutic Target for Kidney Diseases [PDF]

Li-Ping Ou,* Yong-Jian Liu,* Shi-Tong Qiu,* Chen Yang, Ji-Xin Tang, Xiao-Yu Li, Hua-Feng Liu, Zhen-Nan Ye Institute of Nephrology, and Guangdong Provincial Key Laboratory of Autophagy and Major Chronic Non-Communicable Diseases, and Key ...
Ou LP, Qiu ST, Liu YJ, Tang JX, Li XY, Liu HF, Ye ZN, Yang C   +7 more
core  

The epidermal growth factor receptor pathway in chronic kidney diseases

, 2016
The epidermal growth factor receptor (EGFR) pathway has a critical role in renal development, tissue repair and electrolyte handling. Numerous studies have reported an association between dysregulation of this pathway and the initiation and progression ...
Esther Meijer, Meijer, Esther, Harskamp, Laura R., Harry van Goor, Ron T. Gansevoort, Gansevoort, Ron T., Goor, van, Harry, Laura R. Harskamp, Goor, van, Harry; id_orcid   +8 more
core   +1 more source

Exertional heat stroke-related acute kidney injury: novel animal and cellular models

Renal Failure
Exertional heat stroke (EHS) is a life-threatening condition frequently complicated by acute kidney injury (AKI), yet standardized experimental models remain limited. This study aimed to establish reproducible in vivo and in vitro models specifically for
Jiaona Liu, Jing Hao, Pengfei Kang, Yingjie Zhang, Wanjun Shen, Pu Chen, Jingjing Chen, Xuefeng Sun, Xiangmei Chen   +8 more
doaj   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Computational genomics approaches for kidney diseases in Africa [PDF]

, 2015
Philosophiae Doctor - PhDEnd stage renal disease (ESRD), a more severe form of kidney disease, is considered to be a complex trait that may involve multiple processes which work together on a background of a significant genetic susceptibility.
Mapiye, Darlington Shingirirai
core   +1 more source

Membranous nephropathy concurrent with renal amyloidosis: a six-patient report and literature review

Renal Failure
The KDIGO 2021 guidelines suggest that individuals who test positive for serum anti-phospholipase A2 receptor (anti-PLA2R) antibodies may not require a renal biopsy to establish a diagnosis of membranous nephropathy (MN).
Zhe Li, Jing Liu, Shuhua Zhu, Mingchao Zhang, Feng Xu, Chenfeng Jiao, Xianghua Huang, Zhen Cheng, Ke Zuo   +8 more
doaj   +1 more source

ADP‐ribosylation: An emerging regulator of the epigenome

Molecular Oncology, EarlyView.
ADP‐ribosylation has emerged as a dynamic epigenetic signaling mechanism that modifies histones and chromatin‐associated proteins. Through coordinated PARylation and MARylation, it integrates with other histone modifications to regulate chromatin structure, transcription factor activity, and gene expression, influencing genome function and disease ...
Cristel V. Camacho, Chenqian Liu, W. Lee Kraus   +2 more
wiley   +1 more source