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La ricerca find articoli where soggetti phrase all words 'PKD2' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 52 riferimenti
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    1. Pei, Y
      A 'two-hit' model of cystogenesis in autosomal dominant polycystic kidney disease?

      TRENDS IN MOLECULAR MEDICINE
    2. Deltas, CC
      Mutations of the human polycystic kidney disease 2 (PKD2) gene

      HUMAN MUTATION
    3. Torres, VE; Cai, YQ; Chen, X; Wu, GQ; Geng, L; Cleghorn, KA; Johnson, CM; Somlo, S
      Vascular expression of polycystin-2

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    4. Somlo, S; Ehrlich, B
      Human disease: Calcium signaling in polycystic kidney disease

      CURRENT BIOLOGY
    5. Bogdanova, N; Markoff, A; Gerke, V; McCluskey, M; Horst, J; Dworniczak, B
      Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

      GENOMICS
    6. Zerres, K; Eggermann, T; Rudnik-Schoneborn, S
      Cystic kidney disease

      NIEREN-UND HOCHDRUCKKRANKHEITEN
    7. Calvet, JP; Grantham, JJ
      The genetics and physiology of polycystic kidney disease

      SEMINARS IN NEPHROLOGY
    8. Lager, DJ; Qian, Q; Bengal, RJ; Ishibashi, M; Torres, VE
      The pck rat: A new model that resembles human autosomal dominant polycystic kidney and liver disease

      KIDNEY INTERNATIONAL
    9. Arnaout, MA
      Molecular genetics and pathogenesis of autosomal dominant polycystic kidney disease

      ANNUAL REVIEW OF MEDICINE
    10. Gonzalez-Perrett, S; Kim, K; Ibarra, C; Damiano, AE; Zotta, E; Batelli, M; Harris, PC; Reisin, IL; Arnaout, MA; Cantiello, HF
      Polycystin-2, the protein mutated in autosomal dominant polycystic kidney disease (ADPKD), is a Ca2+-permeable nonselective cation channel

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    11. Chen, XZ; Segal, Y; Basora, N; Guo, L; Peng, JB; Babakhanlou, H; Vassilev, PM; Brown, EM; Hediger, MA; Zhou, J
      Transport function of the naturally occurring pathogenic polycystin-2 mutant, R742X

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    12. Vassilev, PM; Guo, L; Chen, XZ; Segal, Y; Peng, JB; Basora, N; Babakhanlou, H; Cruger, G; Kanazirska, M; Ye, CP; Brown, EM; Hediger, MA; Zhou, J
      Polycystin-2 is a novel cation channel implicated in defective intracellular Ca2+ homeostasis in polycystic kidney disease

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    13. Durell, SR; Guy, HR
      A putative prokaryote voltage-gated Ca2+ channel with only one 6TM motif per subunit

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    14. Pei, Y; Paterson, AD; Wang, KR; He, N; Hefferton, D; Watnick, T; Germino, GG; Parfrey, P; Somlo, S; St George-Hyslop, P
      Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    15. Wu, GQ; Somlo, S
      Molecular genetics and mechanism of autosomal dominant polycystic kidney disease

      MOLECULAR GENETICS AND METABOLISM
    16. Trudel, M; Guillaume, R
      Progress in molecular genetics of autosomal dominant polycystic kidney disease

      FRONTIERS IN BIOSCIENCE
    17. Kuida, S; Beier, DR
      Genetic localization of interacting modifiers affecting severity in a murine model of polycystic kidney disease

      GENOME RESEARCH
    18. Koptides, M; Mean, R; Demetriou, K; Pierides, A; Deltas, CC
      Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease

      HUMAN MOLECULAR GENETICS
    19. Persu, A; Devuyst, O
      Transepithelial chloride secretion and cystogenesis in autosomal dominant polycystic kidney disease

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    20. Demetriou, K; Tziakouri, C; Anninou, K; Eleftheriou, A; Koptides, M; Nicolaou, A; Deltas, CC; Pierides, A
      Autosomal dominant polycystic kidney disease - type 2. Ultrasound, geneticand clinical correlations

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    21. Guillaume, R; Trudel, M
      Distinct and common developmental expression patterns of the murine Pkd2 and Pkd1 genes

      MECHANISMS OF DEVELOPMENT
    22. Guo, L; Schreiber, TH; Weremowicz, S; Morton, CC; Lee, C; Zhou, J
      Identification and characterization of a novel polycystin family member, polycystin-L2, in mouse and human: Sequence, expression, alternative splicing, and chromosomal localization

      GENOMICS
    23. Gallagher, AR; Obermuller, N; Cedzich, A; Gretz, N; Witzgall, R
      An ever-expanding story of cyst formation

      CELL AND TISSUE RESEARCH
    24. Torra, R; Badenas, C; Perez-Oller, L; Luis, J; Millan, S; Nicolau, C; Oppenheimer, F; Mila, M; Darnell, A
      Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

      AMERICAN JOURNAL OF KIDNEY DISEASES
    25. Perez-Oller, L; Torra, R; Badenas, C; San Millan, JL; Darnell, A
      Loss of heterozygosity and somatic mutations in autosomal dominant polycystic kidney disease types I and II. Demonstration of a recessive mechanism at the cellular level in cyst formation

      NEFROLOGIA
    26. Torra, R; Badenas, C; Perez-Oller, L; San Millan, JL; Telleria, D; Estivill, X; Darnell, A
      Mutational analysis of PKD1 and PKD2 genes (autosomal dominant polycystic disease type 1 and 2)

      NEFROLOGIA
    27. Arnaout, MA; Madias, NE; Harrington, JT; Perrone, RD; King, AJ; Levey, AS
      The vasculopathy of autosomal dominant polycystic kidney disease: Insightsfrom animal models

      KIDNEY INTERNATIONAL
    28. Hateboer, N; Veldhuisen, B; Peters, D; Breuning, MH; San-Millan, JL; Bogdanova, N; Coto, E; von Dijk, MA; Afzal, AR; Jeffery, S; Saggar-Malik, AK; Torra, R; Dimitrakov, D; Martinez, I; de Castro, SS; Krawczak, M; Ravine, D
      Location of mutations within the PKD2 gene influences clinical outcome

      KIDNEY INTERNATIONAL
    29. Hanaoka, K; Qian, F; Boletta, A; Bhumia, AK; Piontek, K; Tsiokas, L; Sukhatme, VP; Guggino, WB; Germino, GG
      Co-assembly of polycystin-1 and-2 produces unique cation-permeable currents

      NATURE
    30. Kim, K; Drummond, I; Ibraghimov-Beskrovnaya, O; Klinger, K; Arnaout, MA
      Polycystin 1 is required for the structural integrity of blood vessels

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    31. Upadhya, P; Birkenmeier, EH; Birkenmeier, CS; Barker, JE
      Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    32. Trudel, M; Guillaume, R
      Molecular biology of autosomal dominant polycystic kidney disease

      PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
    33. Veldhuisen, B; Spruit, L; Dauwerse, HG; Breuning, MH; Peters, DJM
      Genes homologous to the autosomal dominant polycystic kidney disease genes(PKD1 and PKD2)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    34. Harris, PC
      Autosomal dominant polycystic kidney disease: clues to pathogenesis

      HUMAN MOLECULAR GENETICS
    35. Onuchic, LF; Mrug, M; Lakings, AL; Muecher, G; Becker, J; Zerres, K; Avner, ED; Dixit, M; Somlo, S; Germino, GG; Guay-Woodford, LM
      Genomic organization of the KIAA0057 gene that encodes a TRAM-like proteinand its exclusion as a polycystic kidney and hepatic disease 1 (PKHD1) candidate gene

      MAMMALIAN GENOME
    36. van Adelsberg, JS
      The role of the polycystins in kidney development

      PEDIATRIC NEPHROLOGY
    37. Kim, UK; Shin, JH; Lee, KB; Kim, SH; Chae, JJ; Hong, SS; Jin, DK; Namkoong, Y; Lee, CC
      Polymorphisms in the human autosomal dominant polycystic kidney disease 2 (PKD2) gene

      MOLECULAR AND CELLULAR PROBES
    38. Aguiari, G; Manzati, E; Penolazzi, L; Micheletti, F; Augello, G; Vitali, ED; Cappelli, G; Cai, YQ; Reynolds, D; Somlo, S; Piva, R; del Senno, L
      Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells

      AMERICAN JOURNAL OF KIDNEY DISEASES
    39. Watnick, T; Germino, GG
      Molecular basis of autosomal dominant polycystic kidney disease

      SEMINARS IN NEPHROLOGY
    40. Hateboer, N; Dijk, MAV; Bogdanova, N; Coto, E; Saggar-Malik, AK; San Millan, JL; Torra, R; Breuning, M; Ravine, D
      Comparison of phenotypes of polycystic kidney disease types 1 and 2

      LANCET
    41. Torra, P; Viribay, M; Telleria, D; Badenas, C; Watson, M; Harris, P; Darnell, A; San Millan, JL
      Seven novel mutations of the PKD2 gene in families with autosomal dominantpolycystic kidney disease

      KIDNEY INTERNATIONAL
    42. Torra, R; Badenas, C; San Millan, JL; Perez-Oller, L; Estivill, X; Darnell, A
      A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. Murcia, NS; Woychik, RP; Avner, ED
      The molecular biology of polycystic kidney disease

      PEDIATRIC NEPHROLOGY
    44. PEI Y; WANG KR; KASENDA M; PATERSON AD; LIANG Y; HUANG E; LIAN J; ROGOVEA E; SOMLO S; GEORGEHYSLOP PS
      A NOVEL FRAMESHIFT MUTATION INDUCED BY AN ADENOSINE INSERTION IN THE POLYCYSTIC KIDNEY-DISEASE-2 (PKD2) GENE

      Kidney international
    45. HARRIS PC
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE - A GENETIC PERSPECTIVE

      Nephrology
    46. TORRA R; NICOLAU C; BADENAS C; NAVARRO S; PEREZ L; ESTIVILL X; DARNELL A
      ULTRASONOGRAPHIC STUDY OF PANCREATIC CYSTS IN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Clinical nephrology
    47. BOZZA A; AGUIARI G; SCAPOLI C; SCALIA P; PERINI L; VITALI ED; DELSENNO L
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE LINKED TO PKD2 LOCUS IN A FAMILY WITH SEVERE EXTRARENAL MANIFESTATIONS

      American journal of nephrology
    48. ARIZA M; ALVAREZ V; MARIN R; AGUADO S; LOPEZLARREA C; ALVAREZ J; MENENDEZ MJ; COTO E
      A FAMILY WITH A MILDER FORM OF ADULT DOMINANT POLYCYSTIC KIDNEY-DISEASE NOT LINKED TO THE PKD1 (16P) OR PKD2 (4Q) GENES

      Journal of Medical Genetics
    49. TORRA R; BADENAS C; DARNELL A; NICOLAU C; VOLPINI V; REVERT L; ESTIVILL X
      LINKAGE, CLINICAL-FEATURES, AND PROGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE TYPE-1 AND TYPE-2

      Journal of the American Society of Nephrology
    50. VELDHUISEN B; BREUNING MH; WESBYVANSWAAY E; BOERSMA J; PETERS DJM
      ANALYSIS OF A LARGE FAMILY WITH THE 2ND TYPE OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE

      Nephrology, dialysis, transplantation
    51. BREUNING MH
      GENE DEFECT IN POLYCYSTIC KIDNEY-DISEASE

      Experimental nephrology
    52. WRIGHT GD; HUGHES AE; LARKIN KA; DOHERTY CC; NEVIN NC
      AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE WITH MINIMAL CLINICAL EXPRESSION UNLINKED TO THE PKD1 LOCUS

      Nephrology, dialysis, transplantation


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Documento generato il 01/11/20 alle ore 00:20:28