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Nature Genetics, ISSN 1061-4036, 2008, Volume 40, Issue 1, pp. 32 - 34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H+ ATPase, in several families with autosomal recessive cutis laxa... 
V-ATPASE | COMPLEX-FORMATION | DEFECTS | PATHWAY | GENETICS & HEREDITY | DEFICIENCY REVEALS | CONGENITAL DISORDER | Cutis Laxa - metabolism | Golgi Apparatus | Proton-Translocating ATPases - genetics | Humans | Female | Infant | Male | Cutis Laxa - genetics | Glycosylation | Proteins | Genetics | Skin diseases | Biochemistry | Mutation
Journal Article
Human Genetics, ISSN 0340-6717, 2012, Volume 131, Issue 11, pp. 1761 - 1773
Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were... 
Gene Function | Human Genetics | Molecular Medicine | Biomedicine | Metabolic Diseases | VACUOLAR (H+)-ATPASES | CELLS | GENE | DISEASE | GENETICS & HEREDITY | MISSENSE MUTATION | H+-ATPASE | PROTEIN GLYCOSYLATION | BRAIN DYSGENESIS | ALTERED GLYCOSYLATION | DEBRE TYPE | Skin - metabolism | Golgi Apparatus - drug effects | Humans | Transforming Growth Factor beta1 - metabolism | Child, Preschool | Brefeldin A - pharmacology | Infant | Male | Protein Transport - drug effects | Glycosylation - drug effects | Young Adult | Proton-Translocating ATPases - genetics | Adult | Protein Synthesis Inhibitors - pharmacology | Real-Time Polymerase Chain Reaction | Skin - pathology | Fibroblasts - metabolism | Cutis Laxa - metabolism | Cutis Laxa - congenital | Enzyme-Linked Immunosorbent Assay | RNA, Messenger - genetics | Cells, Cultured | Cutis Laxa - genetics | Fibroblasts - pathology | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | Fibroblasts - drug effects | Adolescent | Fluorescent Antibody Technique | Golgi Apparatus - metabolism | Cutis Laxa - pathology | Skin - drug effects | Apoptosis | Pregnant women | Genes | Skin | Children | Universities and colleges | Transforming growth factors | Health aspects | Cells | Adenosine triphosphatase | Bone morphogenetic proteins | Chemical properties | Indexing in process
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2013, Volume 50, Issue 5, pp. 309 - 323
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2009, Volume 46, Issue 3, pp. 192 - 197
Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterised by severe intrauterine and postnatal growth... 
METHYLATION | CHROMOSOME 11P15 | CENTER REGION | GROWTH | GENETICS & HEREDITY | UNIPARENTAL DISOMY | 7Q31-QTER | GENETIC ETIOLOGY
Journal Article
Science, ISSN 0036-8075, 2014, Volume 343, Issue 6170, pp. 506 - 511
Journal Article
by Athanasiou, Y and Zavros, M and Arsali, M and Papazachariou, L and Demosthenous, P and Savva, I and Voskarides, K and Deltas, C and Pierides, A and Feriozzi, S and Perrin, A and West, M and Nicholls, K and Sunder-Plassmann, G and Torras, J and Neumann, P and Cybulla, M and Cofiell, R and Kukreja, A and Bedard, K and Yan, Y and Mickle, A and Ogawa, M and Bedrosian, C and Faas, S and Meszaros, K and Pruess, L and Gondan, M and Ritz, E and Schaefer, F and Testa, A and Spoto, B and Leonardis, D and Sanguedolce, M. C and Pisano, A and Parlongo, M. R and Tripepi, G and Mallamaci, F and Zoccali, C and Trujillano, D and Bullich, G and Ballarin, J and Torra, R and Estivill, X and Ars, E and Kleber, M. E and Delgado, G and Grammer, T. B and Silbernagel, G and Kraemer, B. K and Maerz, W and Riccio, E and Pisani, A and Abdalla, A. A and Malone, A. F and Winn, M. P and Goodship, T and Cronin, C and Conlon, P. J and Casserly, L. F and Nishio, S and Sakuhara, Y and Matsuoka, N and Yamamoto, J and Nakazawa, D and Nakagakaki, T and Abo, D and Shibazaki, S and Atsumi, T and Mazzinghi, B and Giglio, S and Provenzano, A and Becherucci, F and Sansavini, G and Ravaglia, F and Roperto, R. M and Murer, L and Lasagni, L and Materassi, M and Romagnani, P and Schmidts, M and Christou, S and Cortes, C and McInerney-Leo, A and Kayserili, H and Zankl, A and Peter, S and Duncan, E and Wicking, C and Beales, P. L and Mitchison, H and Magestro, M and Vekeman, F and Nichols, T and Karner, P and Duh, M. S and Srivastava, B and Van Doorn-Khosrovani, S. B. V. W and Zonnenberg, B. A and Musetti, C and ... and On Behalf Of The MAURO Working Group and On Behalf Of The Fabry Outcome Survey Renal Working Group and Uk1ok Consortium
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2014, Volume 29, Issue suppl 3, pp. iii339 - iii350
Journal Article
Journal Article
Human mutation, ISSN 1059-7794, 2010, Volume 31, Issue 10, pp. 1142 - 1154
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 68, Issue 1, pp. 81 - 91
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2008, Volume 40, Issue 1, pp. 32 - 34
We identified loss-of-function mutations in ATP6V0A2, encoding the a2 subunit of the V-type H super(+) ATPase, in several families with autosomal recessive... 
Journal Article
Human Mutation, ISSN 1059-7794, 09/2016, Volume 37, Issue 9, pp. 847 - 864
Journal Article