X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (69) 69
humans (57) 57
mutation (57) 57
animals (31) 31
genetic aspects (31) 31
male (29) 29
female (27) 27
genes (24) 24
genetics & heredity (24) 24
article (23) 23
research (23) 23
proteins (21) 21
zebrafish (21) 21
gene mutations (19) 19
genetics (19) 19
gene (18) 18
nephrotic syndrome (17) 17
child (16) 16
child, preschool (16) 16
mice (16) 16
disease (15) 15
nephrotic syndrome - genetics (15) 15
urology & nephrology (15) 15
infant (14) 14
mutations (13) 13
protein transport (13) 13
health aspects (12) 12
multidisciplinary sciences (12) 12
phenotype (12) 12
kidney diseases (11) 11
pedigree (11) 11
cell biology (10) 10
focal segmental glomerulosclerosis (10) 10
gene knockdown techniques (10) 10
hek293 cells (10) 10
physiological aspects (10) 10
zebrafish - genetics (10) 10
abridged index medicus (9) 9
cystic fibrosis (9) 9
exome (9) 9
genetic association studies (9) 9
genetic disorders (9) 9
pathogenesis (9) 9
adolescent (8) 8
adult (8) 8
genotype & phenotype (8) 8
kidney diseases, cystic - genetics (8) 8
multipoint linkage analysis (8) 8
risk factors (8) 8
rodents (8) 8
analysis (7) 7
cilia (7) 7
ciliopathy (7) 7
cystic fibrosis transmembrane conductance regulator - metabolism (7) 7
expression (7) 7
gene expression (7) 7
genes, recessive (7) 7
hearing loss (7) 7
molecular genetics (7) 7
protein (7) 7
rats (7) 7
report (7) 7
age of onset (6) 6
amino acid sequence (6) 6
cell line (6) 6
cell movement (6) 6
cftr (6) 6
children (6) 6
dna mutational analysis (6) 6
genetic research (6) 6
genomics (6) 6
hearing impairment (6) 6
homozygote (6) 6
linkage analysis (6) 6
membrane proteins - metabolism (6) 6
middle aged (6) 6
molecular sequence data (6) 6
nephrology (6) 6
nephrotic syndrome - pathology (6) 6
otorhinolaryngologic diseases (6) 6
podocytes - metabolism (6) 6
research article (6) 6
transmembrane conductance regulator (6) 6
young adult (6) 6
alleles (5) 5
causes of (5) 5
cell proliferation (5) 5
cells, cultured (5) 5
chemistry (5) 5
cilia - genetics (5) 5
ciliary (5) 5
cystic-fibrosis (5) 5
cytoskeleton (5) 5
disease models, animal (5) 5
diseases (5) 5
endoplasmic-reticulum (5) 5
genetic renal disease (5) 5
genomes (5) 5
high-throughput nucleotide sequencing (5) 5
identification (5) 5
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of the American Academy of Dermatology, ISSN 0190-9622, 07/2019
Journal Article
Cell Biology International, ISSN 1065-6995, 03/2018, Volume 42, Issue 3, pp. 303 - 312
Journal Article
Seminars in Cell and Developmental Biology, ISSN 1084-9521, 11/2018, Volume 83, pp. 59 - 66
Over the past 20 years it has become evident that eukaryotic cells utilize both conventional and unconventional pathways to deliver proteins to their target... 
Transmembrane protein | Secretory autophagy | Unconventional secretion | Pendrin | DNAJC14 | GRASP | CFTR | MEMBRANE | CELL-SURFACE | Pendrina | DEVELOPMENTAL BIOLOGY | AUTOPHAGY | GOLGI CISTERNAE | DROSOPHILA | CELL BIOLOGY | GRASP PROTEIN | GAP-JUNCTIONS | PATHWAY | ENDOPLASMIC-RETICULUM | Protein Transport - physiology | Humans | Proteins - metabolism | Medical colleges | Cystic fibrosis | Leukemia | Membrane proteins | Integrins
Journal Article
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2015, Volume 1270, pp. 137 - 154
Journal Article
by Kim, J and Gee, HY and Lee, MG
JOURNAL OF CELL SCIENCE, ISSN 0021-9533, 06/2018, Volume 131, Issue 12, pp. jcs213686 - jcs213686
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2015, Volume 125, Issue 6, pp. 2375 - 2384
Journal Article
Journal of the American Academy of Dermatology, 07/2019
The association between psoriasis and Parkinson's disease has not been established. To determine the incidence rates and risk factors of Parkinson's disease in... 
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 12/2013, Volume 123, Issue 12, pp. 5179 - 5189
Journal Article
by Sadowski, Carolin E and Lovric, Svjetlana and Ashraf, Shazia and Pabst, Werner L and Gee, Heon Yung and Kohl, Stefan and Engelmann, Susanne and Vega-Warner, Virginia and Fang, Humphrey and Halbritter, Jan and Somers, Michael J and Tan, Weizhen and Shril, Shirlee and Fessi, Inès and Lifton, Richard P and Bockenhauer, Detlef and El-Desoky, Sherif and Kari, Jameela A and Zenker, Martin and Kemper, Markus J and Mueller, Dominik and Fathy, Hanan M and Soliman, Neveen A and Hildebrandt, Friedhelm and Repetto, H.A and MacTaggart, P and Johnstone, L and Alexander, S and Hodson, E and Mache, C and Jungraithmayr, T.C and Aufricht, C and Arbeiter, K and Lilova, M and Sweeny, C and Filler, G and Licht, C and Chan, S.Y and Skalova, S and Seeman, T and Nuutinen, M and Antignac, C and Briese, S and Querfeld, U and Franke, I and Bachmann, H and Kirschstein, M and Weber, L.T and Hoppe, B and Beck, B.B and Habbig, S and Mayer, B and Büscher, R and Mallmann, R and Vester, U and Latta, K and Pohl, M and Häffner, K and Patzer, L and Henne, T and Pape, L and Schiffer, M and Schwarz, A and Kiepe, D and Schäfer, F and Tönshoff, B and Rönnefarth, G and Strehlau, J.S and Schumacher, M and Beetz, R and Klaus, G and Fehrenbach, H and Kuwertz-Broeking, E and Konrad, M and Schulze-Everding, A and Benz, M.R and Griebel, M and Hoefele, J and Muscheistes, J and Wigger, M and Bald, M and Leichter, H and Reusz, G and Louis, D and Senguttuvan, P and Aravind, R and Padmaraj, R and Manorajan, M and Nampoothiri, S and Sharma, J.S and Bagga, A and Choudry, S and Schreiber, R and Frishberg, Y and Cleper, R and Chenin, G and Gianviti, A and Al-Kandari, F and Tasic, V and Ch'ng, G.S and ... and SRNS Study Grp and SRNS Study Group and the SRNS Study Group
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2015, Volume 26, Issue 6, pp. 1279 - 1289
Journal Article
Ear and Hearing, ISSN 0196-0202, 04/2019, p. 1
OBJECTIVES:Late-onset, down-sloping sensorineural hearing loss has many genetic and nongenetic etiologies, but the proportion of this commonly encountered type... 
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 12/2017, Volume 135, Issue 12, p. 1376
Importance Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and... 
Medical treatment | Data processing | Infants | Management | Medical diagnosis | Minority & ethnic groups | Genetic screening | Pax6 protein | Genetic variance | Accuracy | Counseling | Nystagmus | Tomography | Eye diseases | Ophthalmology | Children | Diagnosis | Mutation
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 08/2013, Volume 123, Issue 8, pp. 3243 - 3253
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 2016, Volume 27, Issue 4, pp. 1066 - 1075
Nephrotic syndrome is a CKD defined by proteinuria with subsequent hypoalbuminemia, hyperlipidemia, and edema caused by impaired renal glomerular filtration... 
ZEBRAFISH | NEPHRIN | UROLOGY & NEPHROLOGY | ABLATION | ANGIOTENSIN-II | EMP2 | CELLULAR SENESCENCE | EXPRESSION | Up-Regulation | Membrane Glycoproteins - physiology | Animals | Podocytes - physiology | Humans | Zebrafish | Caveolin 1 - physiology | Nephrotic Syndrome - etiology | zebrafish | proteinuria | nephrotic syndrome | podocyte | Basic Research
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article