X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (46) 46
polycystic kidney, autosomal dominant - genetics (42) 42
trpp cation channels (34) 34
polycystic-kidney-disease-1 pkd1 (33) 33
proteins - genetics (30) 30
protein (26) 26
nonsense mutation (24) 24
urology & nephrology (22) 22
polycystic kidney disease (21) 21
animals (20) 20
genetics & heredity (19) 19
mutation (19) 19
female (18) 18
pkd1 (18) 18
adult (16) 16
male (16) 16
polycystic kidney-disease (16) 16
adpkd (15) 15
membrane proteins - genetics (15) 15
biochemistry & molecular biology (14) 14
mice (13) 13
pkd1 gene (13) 13
encodes (12) 12
italian family (12) 12
region (12) 12
expression (11) 11
identification (11) 11
kidney-disease-1 gene (11) 11
middle aged (11) 11
base sequence (10) 10
index medicus (10) 10
kidney-disease-1 (10) 10
renal-disease (10) 10
2nd gene (9) 9
cyst formation (9) 9
polycystic kidney, autosomal dominant - metabolism (9) 9
cystogenesis (8) 8
epithelial-cells (8) 8
molecular sequence data (8) 8
polycystic kidney, autosomal dominant - pathology (8) 8
polycystic kidney, autosomal dominant - physiopathology (8) 8
cell biology (7) 7
dna mutational analysis (7) 7
family (7) 7
frameshift mutation (7) 7
genetics (7) 7
localization (7) 7
locus (7) 7
pathogenesis (7) 7
pedigree (7) 7
pkd2 (7) 7
polymorphism (7) 7
trpp cation channels - genetics (7) 7
trpp cation channels - metabolism (7) 7
exons (6) 6
gene (6) 6
membrane proteins - metabolism (6) 6
mutation - genetics (6) 6
nephrology (6) 6
phenotype (6) 6
polycystic kidney, autosomal dominant - diagnosis (6) 6
polymorphism, genetic (6) 6
proteins (6) 6
proteins - metabolism (6) 6
research article (6) 6
urologic and male genital diseases (6) 6
2-hit model (5) 5
aged (5) 5
cysts (5) 5
dna (5) 5
female genital diseases and pregnancy complications (5) 5
gene expression (5) 5
genetic testing (5) 5
genotype (5) 5
heterogeneity (5) 5
kidney diseases (5) 5
medicine, research & experimental (5) 5
mice, knockout (5) 5
mutation detection (5) 5
mutations (5) 5
polycystic kidney diseases - genetics (5) 5
polymerase chain reaction (5) 5
polymorphism, single-stranded conformational (5) 5
proteins - chemistry (5) 5
tumor suppressor proteins (5) 5
age of onset (4) 4
aged, 80 and over (4) 4
alleles (4) 4
amino acid sequence (4) 4
article (4) 4
c-myc (4) 4
cells (4) 4
chromosome-16 (4) 4
cystic-fibrosis (4) 4
disease models, animal (4) 4
disease progression (4) 4
exons - genetics (4) 4
gene deletion (4) 4
genetic aspects (4) 4
in-vitro (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


BBA - Molecular Basis of Disease, ISSN 0925-4439, 2011, Volume 1812, Issue 10, pp. 1202 - 1212
Autosomal dominant polycystic kidney disease (ADPKD) is a common, monogenic multi-systemic disorder characterized by the development of renal cysts and various... 
ADPKD | PKD gene | Variants of uncertain significance | Mutation | Gene variation | Polycystic kidney disease | SEQUENCE-ANALYSIS | PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | PHENOTYPE | RENAL-DISEASE | MODIFIER GENES | PATHOGENESIS | BIOPHYSICS | CYSTOGENESIS | POLYCYSTIC-KIDNEY-DISEASE-1 PKD1 GENE | EXPRESSION | Genetic research | Genetic aspects | Chronic kidney failure | Gene mutations
Journal Article
AMERICAN JOURNAL OF HUMAN GENETICS, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1193 - 1207
Autosomal-dominant polycystic kidney disease (ADPKD) is a common, progressive, adult-onset disease that is an important cause of end-stage renal disease... 
YEAST | GLOMERULAR-FILTRATION-RATE | PROTEIN | CYST FORMATION | HETERODIMERIC STRUCTURE | IN-VIVO | GENETICS & HEREDITY | KIDNEY-DISEASE-1 GENE | ENDOPLASMIC-RETICULUM | QUALITY-CONTROL | GLYCOSYLATION
Journal Article
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 07/2007, Volume 18, Issue 7, pp. 2143 - 2160
Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) is complicated by genetic and allelic heterogeneity, large... 
DOMAIN | ADPKD | PROTEIN | SUBSTITUTIONS | UROLOGY & NEPHROLOGY | PKD1 GENE | MUTATIONS | BRCA1 | SPECTRUM | IDENTIFICATION | KIDNEY-DISEASE-1 | Molecular Diagnostic Techniques | Polycystic Kidney, Autosomal Dominant - genetics | Polycystic Kidney, Autosomal Dominant - diagnosis | Humans | Middle Aged | Adolescent | Adult | Mutation | Sequence Analysis, DNA
Journal Article
The EMBO Journal, ISSN 0261-4189, 03/2012, Volume 31, Issue 6, pp. 1364 - 1378
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 08/1998, Volume 7, Issue 8, pp. 1239 - 1243
Journal Article
Journal of Vascular Research, ISSN 1018-1172, 09/2015, Volume 52, Issue 2, pp. 81 - 93
Journal Article