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1. Full Text Cutis laxa: A review
by Berk, David R., MD and Bentley, Danette D., MD and Bayliss, Susan J., MD and Lind, Anne, MD and Urban, Zsolt, PhD
Journal of the American Academy of Dermatology, ISSN 0190-9622, 2011, Volume 66, Issue 5, pp. 842.e1 - 842.e17
Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have... 
Dermatology | genodermatosis | cutis laxa | elastin | fibulin-4 | elastic tissue | fibulin-5 | OCCIPITAL-HORN-SYNDROME | SPLICE-SITE MUTATIONS | BETA-BINDING-PROTEINS | WRINKLY SKIN SYNDROME | DE-BARSY-SYNDROME | AUTOSOMAL-RECESSIVE FORM | DERMATOLOGY | EXTRACELLULAR-MATRIX PROTEINS | CAUSE PSEUDOXANTHOMA ELASTICUM | ARTERIAL-TORTUOSITY-SYNDROME | EHLERS-DANLOS-SYNDROME | Immunohistochemistry | Severity of Illness Index | Prognosis | Risk Assessment | Extracellular Matrix Proteins - genetics | Humans | Cutis Laxa - epidemiology | Male | Cutis Laxa - genetics | Incidence | Elastic Tissue - pathology | Abnormalities, Multiple - diagnosis | Abnormalities, Multiple - epidemiology | Female | Biopsy, Needle | Genetic Predisposition to Disease - epidemiology | Cutis Laxa - pathology | Abnormalities, Multiple - genetics | Transforming growth factors | Skin | Universities and colleges
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2. Full Text Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2
by Kornak, U and Reynders, E and Dimopoulou, A and Reeuwijk, J. van and Fischer, B and Rajab, A and Budde, B and Nurnberg, P and Foulquier, F and Lefeber, D.J and Urban, Z and Gruenewald, S and Annaert, W and Brunner, H.G and Bokhoven, H. van and Wevers, R.A and Morava, E and Matthijs, G and Maldergem, L. van and Mundlos, S and ARCL Debre-type Study Grp and ARCL Debré-type Study Group and the ARCL Debré-type Study Group
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
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3. Full Text Mutations in PYCR1 cause cutis laxa with progeroid features
by Reversade, Bruno and Escande-Beillard, Nathalie and Dimopoulou, Aikaterini and Fischer, Björn and Chng, Serene C and Li, Yun and Shboul, Mohammad and Tham, Puay-Yoke and Kayserili, Hülya and Al-Gazali, Lihadh and Shahwan, Monzer and Brancati, Francesco and Lee, Hane and O'Connor, Brian D and Kegler, Mareen Schmidt-Von and Merriman, Barry and Nelson, Stanley F and Masri, Amira and Alkazaleh, Fawaz and Guerra, Deanna and Ferrari, Paola and Nanda, Arti and Rajab, Anna and Markie, David and Gray, Mary and Nelson, John and Grix, Arthur and Sommer, Annemarie and Savarirayan, Ravi and Janecke, Andreas R and Steichen, Elisabeth and Sillence, David and Haußer, Ingrid and Budde, Birgit and Nürnberg, Gudrun and Nürnberg, Peter and Seemann, Petra and Kunkel, Désirée and Zambruno, Giovanna and Dallapiccola, Bruno and Schuelke, Markus and Robertson, Stephen and Hamamy, Hanan and Wollnik, Bernd and Van Maldergem, Lionel and Mundlos, Stefan and Kornak, Uwe
Nature Genetics, ISSN 1061-4036, 09/2009, Volume 41, Issue 9, pp. 1016 - 1021
Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin,... 
GERODERMIA OSTEODYSPLASTICA | SKIN SYNDROME | CITRULLINE | OPA1 | HYPERAMMONEMIA | MITOCHONDRIA | GENETICS & HEREDITY | ARGININE | REDUCED ORNITHINE | GLYCOSYLATION | PROLINE | Skin - cytology | Agenesis of Corpus Callosum | Frameshift Mutation | Pyrroline Carboxylate Reductases - metabolism | Skin - metabolism | Cutis Laxa - etiology | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Mutation, Missense | Case-Control Studies | Intellectual Disability - genetics | Base Sequence | Gene Deletion | Female | Infant, Newborn | Fibroblasts - metabolism | Cutis Laxa - metabolism | Physical Chromosome Mapping | Cutis Laxa - genetics | Genetic Markers | Genes, Recessive | Pyrroline Carboxylate Reductases - genetics | Homozygote | Chromosomes, Human, Pair 17 | Pedigree | Skin - ultrastructure | Consanguinity | Polymorphism, Single Nucleotide | Mutation | Proteins | Human subjects | Genotype & phenotype | Zebrafish | Genetics | Skin | Apoptosis
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4. Full Text Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
by Van Damme, Tim and Gardeitchik, Thatjana and Mohamed, Miski and Guerrero-Castillo, Sergio and Freisinger, Peter and Guillemyn, Brecht and Kariminejad, Ariana and Dalloyaux, Daisy and van Kraaij, Sanne and Lefeber, Dirk J and Syx, Delfien and Steyaert, Wouter and De Rycke, Riet and Hoischen, Alexander and Kamsteeg, Erik-Jan and Wong, Sunnie Y and van Scherpenzeel, Monique and Jamali, Payman and Brandt, Ulrich and Nijtmans, Leo and Korenke, G. Christoph and Chung, Brian H.Y and Mak, Christopher C.Y and Hausser, Ingrid and Kornak, Uwe and Fischer-Zirnsak, Björn and Strom, Tim M and Meitinger, Thomas and Alanay, Yasemin and Utine, Gulen E and Leung, Peter K.C and Ghaderi-Sohi, Siavash and Coucke, Paul and Symoens, Sofie and De Paepe, Anne and Thiel, Christian and Haack, Tobias B and Malfait, Fransiska and Morava, Eva and Callewaert, Bert and Wevers, Ron A
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 216 - 227
Defects of the V-type proton (H ) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory... 
ATP6V1A | cellular trafficking | ARCL2 | congenital disorder of glycosylation | V-ATPase | cutis laxa | CDG | ATP6V1E1 | autosomal recessive | Golgi apparatus | CONNECTIVE-TISSUE DISORDERS | GOLGI HOMEOSTASIS | ABNORMAL PROTEIN GLYCOSYLATION | IMAGE-ANALYSIS | GENETICS & HEREDITY | CONGENITAL DISORDERS | VACUOLAR PROTON PUMP | RENAL TUBULAR-ACIDOSIS | MISSENSE MUTATIONS | I-TASSER | DEFICIENCY CAUSES | Amino Acid Sequence | Vacuolar Proton-Translocating ATPases - genetics | Genome-Wide Association Study | Humans | Gene Expression Regulation | Infant | Male | Cutis Laxa - genetics | Glycosylation | Mutation, Missense | Case-Control Studies | Protein Transport | Tandem Mass Spectrometry | Pedigree | Adolescent | Alleles | Female | Golgi Apparatus - metabolism | Protein Conformation | Child | Infant, Newborn | Fibroblasts - metabolism | Cutis laxa | Genetic aspects | Gene mutations | Health aspects | Adenosine triphosphatase | Physiological aspects | Research | Risk factors
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5. Full Text Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
by Fischer-Zirnsak, Björn and Escande-Beillard, Nathalie and Ganesh, Jaya and Tan, Yu Xuan and Al Bughaili, Mohammed and Lin, Angela E and Sahai, Inderneel and Bahena, Paulina and Reichert, Sara L and Loh, Abigail and Wright, Graham D and Liu, Jaron and Rahikkala, Elisa and Pivnick, Eniko K and Choudhri, Asim F and Krüger, Ulrike and Zemojtel, Tomasz and van Ravenswaaij-Arts, Conny and Mostafavi, Roya and Stolte-Dijkstra, Irene and Symoens, Sofie and Pajunen, Leila and Al-Gazali, Lihadh and Meierhofer, David and Robinson, Peter N and Mundlos, Stefan and Villarroel, Camilo E and Byers, Peter and Masri, Amira and Robertson, Stephen P and Schwarze, Ulrike and Callewaert, Bert and Reversade, Bruno and Kornak, Uwe
The American Journal of Human Genetics, ISSN 0002-9297, 09/2015, Volume 97, Issue 3, pp. 483 - 492
Progeroid disorders overlapping with De Barsy syndrome (DBS) are collectively denoted as autosomal-recessive cutis laxa type 3 (ARCL3). They are caused by... 
P5CS | progeroid syndrome | cutis laxa | proline metabolism | mitochondria | pyrroline-5-carboxylate synthase | PYCR1 | De Barsy syndrome | ALDH18A1 | Amino Acid Sequence | Species Specificity | Proline - metabolism | Humans | Intellectual Disability - pathology | Molecular Sequence Data | Cutis Laxa - genetics | Corneal Opacity - genetics | Sequence Analysis, DNA | Mutation, Missense - genetics | Intellectual Disability - genetics | Sequence Alignment | Corneal Opacity - pathology | Pedigree | Base Sequence | Ornithine-Oxo-Acid Transaminase - genetics | Cutis Laxa - pathology | Genes, Dominant - genetics | Skin - pathology | Physiological aspects | Genetic disorders | Gene mutations | Observations | Report
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6. Full Text New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations
by Callewaert, Bert and Renard, Marjolijn and Hucthagowder, Vishwanathan and Albrecht, Beate and Hausser, Ingrid and Blair, Edward and Dias, Cristina and Albino, Alice and Wachi, Hiroshi and Sato, Fumiaki and Mecham, Robert P and Loeys, Bart and Coucke, Paul J and De Paepe, Anne and Urban, Zsolt
Human Mutation, ISSN 1059-7794, 04/2011, Volume 32, Issue 4, pp. 445 - 455
Autosomal dominant cutis laxa (ADCL) is characterized by a typical facial appearance and generalized loose skin folds, occasionally associated with aortic root... 
skin | aneurysm | connective tissue | ELN | emphysema | Connective tissue | Skin | Emphysema | Aneurysm | TERMINAL DOMAIN | FORM | OCCIPITAL HORN SYNDROME | ELASTIC FIBER FORMATION | BINDING PROTEIN | GENE | MARFAN-SYNDROME | GENETICS & HEREDITY | MISSENSE MUTATION | EXTRACELLULAR-MATRIX | TROPOELASTIN | Humans | Child, Preschool | Male | Chromosome Disorders | Cutis Laxa - genetics | Elastic Tissue - metabolism | Elastic Tissue - pathology | Transforming Growth Factor beta - genetics | Elastin - genetics | Tropoelastin - genetics | Tropoelastin - metabolism | Adolescent | Female | Mutation | Child | Cutis Laxa - pathology | Transforming Growth Factor beta - metabolism
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7. Cutis laxa
by Mohamed, Miski and Voet, Michiel and Gardeitchik, Thatjana and Morava, Eva
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 2014, Volume 802, pp. 161 - 184
Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of... 
Cutis Laxa - classification | Skin - metabolism | Extracellular Matrix Proteins - genetics | Humans | Gene Expression Regulation | Terminology as Topic | Cutis Laxa - genetics | Mitochondrial Proteins - genetics | Cutis Laxa - diagnosis | Inheritance Patterns | Carrier Proteins - genetics | Pedigree | Mutation | Cutis Laxa - pathology | Skin - pathology | Practice Guidelines as Topic
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8. Full Text Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome
by Hucthagowder, Vishwanathan and Sausgruber, Nina and Kim, Katherine H and Angle, Brad and Marmorstein, Lihua Y and Urban, Zsolt
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 78, Issue 6, pp. 1075 - 1080
Cutis laxa is a condition characterized by redundant, pendulous, and inelastic skin. We identified a patient with recessive inheritance of a missense mutation... 
ELASTOGENESIS | ELASTIN GENE | FORM | MARFAN-SYNDROME | IN-VIVO | DISEASE | GENETICS & HEREDITY | MUTATIONS | TROPOELASTIN | Amino Acid Sequence | Extracellular Matrix Proteins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Cutis Laxa - genetics | Mutation, Missense | Genes, Recessive | Syndrome | Adult | Female | Cutis Laxa - pathology | Abnormalities, Multiple - genetics | Skin - pathology | Fibula | Cutis laxa | Genetic aspects | Research | Gene mutations | Report
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9. Full Text Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
by Dimopoulou, Aikaterini and Fischer, Björn and Gardeitchik, Thatjana and Schröter, Phillipe and Kayserili, Hülya and Schlack, Claire and Li, Yun and Brum, Jaime Moritz and Barisic, Ingeborg and Castori, Marco and Spaich, Christiane and Fletcher, Elaine and Mahayri, Zeina and Bhat, Meenakshi and Girisha, Katta M and Lachlan, Katherine and Johnson, Diana and Phadke, Shubha and Gupta, Neerja and Simandlova, Martina and Kabra, Madhulika and David, Albert and Nijtmans, Leo and Chitayat, David and Tuysuz, Beyhan and Brancati, Francesco and Mundlos, Stefan and Van Maldergem, Lionel and Morava, Eva and Wollnik, Bernd and Kornak, Uwe
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 352 - 361
Autosomal recessive cutis laxa type 2B (ARCL2B; OMIM # ) is a segmental progeroid disorder caused by mutations in encoding pyrroline-5-carboxylate reductase 1,... 
Proline | PYCR1 | Mitochondria | Segmental progeroid disorders | Autosomal recessive cutis laxa | MEDICINE, RESEARCH & EXPERIMENTAL | OSTEODYSPLASTICA | BIOCHEMISTRY & MOLECULAR BIOLOGY | PYCR1 MUTATIONS | TRAFFICKING | BRAIN DYSGENESIS | DEBRE TYPE | GENE | GENETICS & HEREDITY | BARSY SYNDROME | MISSENSE MUTATION | DELTA-PYRROLINE-5-CARBOXYLATE SYNTHASE P5CS | ALTERED GLYCOSYLATION | Genetic Association Studies | Exons | Humans | Models, Molecular | Genotype | Cutis Laxa - genetics | Pyrroline Carboxylate Reductases - genetics | Cutis Laxa - diagnosis | Phenotype | Alleles | Facies | Protein Conformation | Mutation | Pyrroline Carboxylate Reductases - chemistry | Gene Order
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10. Full Text Autosomal recessive cutis laxa syndrome revisited
by Morava, E and Guillard, M and Lefeber, D.J and Wevers, R.A
European Journal of Human Genetics, ISSN 1018-4813, 2009, Volume 17, Issue 9, pp. 1099 - 1110
The clinical spectrum of the autosomal recessive cutis laxa syndromes is highly heterogeneous with respect to organ involvement and severity. One of the major... 
GROWTH-RETARDATION | cutis laxa | MENTAL-RETARDATION | SPLICE-SITE MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OCCIPITAL HORN SYNDROME | gerodermia osteodysplastica | WRINKLY SKIN SYNDROME | DEVELOPMENTAL DELAY | GLYCOSYLATION | congenital disorders of glycosylation | De Barsy Syndrome | wrinkled skin | GENETICS & HEREDITY | ATP6V0A2 | CONGENITAL DISORDERS | DEFICIENCY REVEALS | Cutis Laxa - classification | Prognosis | Skin - metabolism | Humans | Cutis Laxa - genetics | Glycosylation | Skin Aging | Genes, Recessive | Syndrome | Proton-Translocating ATPases - genetics | Mutation | Skin - physiopathology | Cutis Laxa - pathology | Skin - pathology | Phenotypes | Congenital diseases | Elastin | Biosynthesis | Microcephaly | Metabolism | Defects | Fibers | Dwarfism | Proteins | Polysaccharides | Etiology | Genetics | Extracellular matrix | Skin | Diagnosis | Genotypes | Practical Genetics
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11. Full Text Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4
by Esmail, Sally and Kartner, Norbert and Yao, Yeqi and Kim, Joo Wan and Reithmeier, Reinhart A. F and Manolson, Morris F
Journal of Biological Chemistry, ISSN 0021-9258, 2018, Volume 293, Issue 8, pp. 2787 - 2800
The a subunit is the largest of 15 different subunits that make up the vacuolar H+-ATPase (V-ATPase) complex, where it functions in proton translocation. In... 
TOPOLOGY | TRANSPORT | ISOFORMS | N-LINKED GLYCOSYLATION | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | COMPLEXES | ACIDIFICATION | OSTEOPETROSIS | VACUOLAR H+-ATPASE | Golgi Apparatus - enzymology | Vacuolar Proton-Translocating ATPases - genetics | Kidney - pathology | Humans | Kidney - enzymology | Protein Multimerization | Acidosis, Renal Tubular - genetics | Endoplasmic Reticulum - metabolism | Golgi Apparatus - pathology | Mutation, Missense | Recombinant Fusion Proteins - metabolism | Vacuolar Proton-Translocating ATPases - metabolism | Proton-Translocating ATPases - metabolism | Endoplasmic Reticulum - pathology | Kidney - metabolism | Proton-Translocating ATPases - genetics | Proteolysis | Acidosis, Renal Tubular - pathology | Cell Membrane - pathology | HEK293 Cells | Cell Membrane - metabolism | Protein Interaction Domains and Motifs | Cutis Laxa - metabolism | Endoplasmic Reticulum - enzymology | Enzyme Stability | Models, Molecular | Cutis Laxa - genetics | Glycosylation | Recombinant Fusion Proteins - chemistry | Acidosis, Renal Tubular - metabolism | Protein Transport | Proton-Translocating ATPases - chemistry | Cell Membrane - enzymology | Vacuolar Proton-Translocating ATPases - chemistry | Golgi Apparatus - metabolism | Protein Processing, Post-Translational | Proteasome Endopeptidase Complex - metabolism | Cutis Laxa - pathology | Amino Acid Substitution | Molecular Bases of Disease | 3D modeling | proton pump | ATPase | ER-associated degradation | membrane protein | trafficking | N-glycosylation | protein degradation
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12. Full Text Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
by Fischer, B and Dimopoulou, A and Egerer, J and Gardeitchik, T and Kidd, A and Jost, D and Kayserili, H and Alanay, Y and Tantcheva-Poor, I and Mangold, E and Daumer-Haas, C and Phadke, S and Peirano, R.I and Heusel, J and Desphande, C and Gupta, N and Nanda, A and Felix, E and Berry-Kravis, E and Kabra, M and Wevers, R.A and van Maldergem, L and Mundlos, S and Morava, E and Kornak, U
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
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