Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics

by Jonathan de Fallois, Ria Schönauer, Johannes Münch, Mato Nagel, Bernt Popp, Jan Halbritter
Published 2021-06-01

Autosomal dominant polycystic kidney disease: Presence of hypomorphic alleles in PKD1 Gene

by S Pandita, D Khullar, R Saxena, I C Verma
Published 2018-01-01

Clinical and genetic characteristics of Korean autosomal dominant polycystic kidney disease patients

by Yun Kyu Oh, Hayne Cho Park, Hyunjin Ryu, Yong-Chul Kim, Kook-Hwan Oh
Published 2021-07-01

Kidney cystosis in tuberous sclerosis in infants

by E. F. Andreeva, N. D. Savenkova
Published 2018-03-01

PKD1-associated autosomal dominant polycystic kidney disease with glomerular cysts presenting with nephrotic syndrome caused by focal segmental glomerulosclerosis

by Yasuhiro Oda, Naoki Sawa, Eiko Hasegawa, Hiroki Mizuno, Masahiro Kawada, Akinari Sekine, Rikako Hiramatsu, Masayuki Yamanouchi, Noriko Hayami, Tatsuya Suwabe, Junichi Hoshino, Kenmei Takaichi, Keiichi Kinowaki, Kenichi Ohashi, Takeshi Fujii, Yoshifumi Ubara
Published 2019-08-01

IGF1R and MAPK15 Emerge as Potential Targets of Pentabromobenzylisothioureas in Lung Neuroendocrine Neoplasms

by Ewelina Motylewska, Marcin Braun, Zygmunt Kazimierczuk, Hanna Ławnicka, Henryk Stępień
Published 2020-10-01

Cluster of differentiation 8 and programmed cell death ligand 1 expression in triple-negative breast cancer combined with autosomal dominant polycystic kidney disease and tuberous...

by Kenji Gonda, Takanori Akama, Takayuki Nakamura, Eiko Hashimoto, Naomi Kyoya, Yuichi Rokkaku, Yuko Maejima, Shoichiro Horita, Kazunoshin Tachibana, Noriko Abe, Tohru Ohtake, Kenju Shimomura, Koji Kono, Shigehira Saji, Seiichi Takenoshita, Eiji Higashihara
Published 2019-12-01

Étude in vivo du rôle du domaine extracellulaire de la polycystine-1

by Kurbegovic, Almira
Published 2016

Caractérisation des mécanismes moléculaires de la polykystose rénale autosomique dominante

by Thivierge, Caroline
Published 2016

Modification of PCR Conditions and Design of Exon-Specific Primers for the Efficient Molecular Diagnosis of PKD1 Mutations

by WeiQiang Liu, Min Chen, Jun Wei, WenYin He, ZhiHua Li, XiaoFang Sun, YuLing Shi
Published 2014-11-01

A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report

by Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao
Published 2018-11-01

Validazione della Diagnosi Molecolare di Rene Policistico Autosomico Dominante Mediante la Tecnologia Next Generation Sequencing

by Francesca Ferrari, Silvana Tedeschi, Roberta Cerutti, Piergiorgio Messa, Manuela Seia
Published 2016-07-01

Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

by Gabriela Hrčková, Eszter Hegyi, Katarína Skalická, Iveta Čierna, Tomáš Dallos, Denisa Ilenčíková
Published 2020-05-01

Chronic pancreatitis with polycystic kidney disease: A rare coincidence?

by Gabriela Hrčková, Eszter Hegyi, Katarína Skalická, Iveta Čierna, Tomáš Dallos, Denisa Ilenčíková
Published 2020-05-01

Autosomal dominant polycystic kidney disease: an update on epidemiological and molecular aspects

by Everton F. Alves, Sueli D. Borelli, Luiza T. Tsuneto
Published 2015-12-01

Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante

by Cote, Olivier
Published 2009

Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante

by Côté, Olivier
Published 2009

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using <i>PKD1/PKD2</i> Mutations

by Hiroshi Kataoka, Hinata Fukuoka, Shiho Makabe, Rie Yoshida, Atsuko Teraoka, Yusuke Ushio, Taro Akihisa, Shun Manabe, Masayo Sato, Michihiro Mitobe, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki
Published 2020-01-01

Polycystin-1 Enhances Stemmness Potential of Umbilical Cord Blood-Derived Mesenchymal Stem Cells

by Se-Hwa Jung, Ji-Eun You, Soon-Won Choi, Kyung-Sun Kang, Je-Yeol Cho, Jungmook Lyu, Pyung-Hwan Kim
Published 2021-05-01

Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease

by A.P. Bastos, L.F. Onuchic
Published 2011-07-01