Results 21 to 30 of about 2,624,306 (259)

A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 [PDF]

, 2012
Background Nephronophthisis (NPHP) as a cause of cystic kidney disease is the most common genetic cause of progressive renal failure in children and young adults.
Morahan, G., Mathew I Bellgard, Roberto A Barrero, Morahan, G, McCooke, J.K., Bellgard, MI, Jacqueline K Phillips, Ding, A., John K McCooke, Appels, R, Grant Morahan, Phillips, J.K., Justyna E Ozimek-Kulik, Phillips, JK, Bellgard, M.I., Barrero, RA, McCooke, JK, Appels, R., Barrero, R.A., Ozimek-Kulik, J.E., Rudi Appels, Alice Ding, Ozimek-Kulik, JE, Ding, A   +23 more
core   +1 more source

Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Wuethrich, Rudolf P., Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D   +101 more
core   +2 more sources

Emerging Therapies for Childhood Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype.
William E. Sweeney, Ellis D. Avner
doaj   +1 more source

Exploring the Spectrum of Kidney Ciliopathies

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai, Camillo Porta   +7 more
doaj   +1 more source

Gene therapy for pediatric genetic kidney diseases

Pediatric Discovery, 2023
Genetic kidney disease is the main cause of chronic kidney disease in children. While the pathogenic genes associated with most genetic kidney diseases have been identified, the underlying mechanisms of disease initiation remain ambiguous, and effective ...
Yi Lu, Yandong Song, Shaokai Sun, Lirong Zhang, Yupeng Chen   +4 more
doaj   +1 more source

Beyond polycystic kidney disease [PDF]

BMJ Case Reports, 2017
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations inTSC1andTSC2genes.TSC2gene is located in chromosome 16p13.3, adjacent toPKD1gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects theTSC2andPKD1genes has been confirmed ...
Santos, SF, Francisco, T, Cordeiro, AI, Lopes, MJ   +3 more
openaire   +3 more sources

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD) [PDF]

, 2022
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary cystic kidney disease, with patients often having a positive family history that is characterized by a similar phenotype. However, in atypical cases, particularly those in
Moriyama, Tomofumi, Shinya Nakatani, Keiji Shimazu, Tomofumi Moriyama, Uchiyama, Kiyotaka, Nishio, Saori, Yasuto Shikida, Hiroshi Kataoka, Nakatani, Shinya, Sekine, Akinari, Suwabe, Tatsuya, Kazushige Hanaoka, Sumi Hidaka, Kataoka, Hiroshi, Makabe, Shiho, Shimabukuro, Wataru, Junichi Hoshino, Muto, Satoru, Saori Nishio, Miura, Kenichiro, Nakanishi, Koichi, Ishikawa, Eiji, Shiho Makabe, Manabe, Shun, Ichiei Narita, Kenichiro Miura, Tadashi Otsuka, Kawano, Haruna, Shimazu, Keiji, Sato, Mai, Narita, Ichiei, Hirayasu Kai, Satoru Muto, Shun Manabe, Hanaoka, Kazushige, Hoshino, Junichi, Eiji Ishikawa, Otsuka, Tadashi, Wataru Shimabukuro, Hayashi, Hiroki, Kiyotaka Uchiyama, Koichi Nakanishi, Hattanda, Fumihiko, Mochizuki, Toshio, Fumihiko Hattanda, Mahiro Kurashige, Ken Tsuchiya, Kan Katayama, Hiroki Hayashi, Shikida, Yasuto, Kai, Hirayasu, Horie, Shigeo, Kurashige, Mahiro, Tatsuya Suwabe, Haruna Kawano, Akinari Sekine, Mai Sato, Toshio Mochizuki, Shigeo Horie, Hidaka, Sumi, Tsuchiya, Ken, Katayama, Kan   +61 more
core   +1 more source

Naringenin inhibits the growth of Dictyostelium and MDCK-derived cysts in a polycystin-2 (TRPP2)-dependent manner. [PDF]

, 2013
Identifying and characterising potential new therapeutic agents to target cell proliferation may provide improved treatments for neoplastic disorders such as cancer and polycystic ...
Baines, D, Williams, R.S.B., Dinh, C, Ludtmann, M H R, Waheed, A., Ludtmann, M.H.R., Pakes, N, Carew, M., Williams, RS, Pakes, N., Robery, S, Carew, MA, Waheed, A, Ludtmann, MH, Kuspa, A, Robery, S., Kuspa, A., Baines, D., Carew, M A, Williams, R S, Dinh, C.   +20 more
core   +1 more source

Venous Thromboembolism in Kidney Diseases and Genetic Predisposition

Kidney Diseases, 2022
Background: Many renal diseases have been associated with profound clinical effects on thrombosis. To our knowledge, patients with nephrotic syndrome (NS) and chronic kidney disease (CKD) display an elevated risk of vein thrombosis, which is among the ...
Tingting Wu, Liang V. Tang, Yu Hu
doaj   +1 more source

Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
doaj   +1 more source