| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1043143927 |
| P356 | DOI | 10.1038/NG.252 |
| P932 | PMC publication ID | 3122266 |
| P698 | PubMed publication ID | 18997784 |
| P5875 | ResearchGate publication ID | 23462299 |
| P50 | author | Francesco Brancati | Q21542387 |
| Peter Nürnberg | Q2077335 | ||
| Paige Kaplan | Q114428785 | ||
| Bruno Dallapiccola | Q28316983 | ||
| Stefan Mundlos | Q28324725 | ||
| Anna Rajab | Q28324733 | ||
| Jill Clayton-Smith | Q28354344 | ||
| Giuseppe Zampino | Q30170041 | ||
| Francis A. Barr | Q37378170 | ||
| Jirko Kühnisch | Q38295562 | ||
| William G. Newman | Q38545164 | ||
| Hans Christian Hennies | Q40934348 | ||
| Marc Nätebus | Q40934659 | ||
| P2093 | author name string | Johannes Egerer | |
| Xin Zhang | |||
| Uwe Kornak | |||
| Kay Metcalfe | |||
| Peter Wieacker | |||
| Beat Steinmann | |||
| William R Wilcox | |||
| Wenke Seifert | |||
| May Tassabehji | |||
| Birgit Budde | |||
| Valentina Fodale | |||
| Haikuo Zhang | |||
| Dietmar Müller | |||
| P2860 | cites work | Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly | Q21092775 |
| Neural network prediction of translation initiation sites in eukaryotes: perspectives for EST and genome analysis. | Q52282359 | ||
| Cloning and characterization of a novel gene which encodes a protein interacting with the mitosis-associated kinase-like protein NTKL | Q24303867 | ||
| Scyl1, mutated in a recessive form of spinocerebellar neurodegeneration, regulates COPI-mediated retrograde traffic | Q24321860 | ||
| Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder | Q24337890 | ||
| Is geroderma osteodysplastica underdiagnosed? | Q24518052 | ||
| Early/recycling endosomes-to-TGN transport involves two SNARE complexes and a Rab6 isoform | Q24671033 | ||
| Rab6 regulates both ZW10/RINT-1 and conserved oligomeric Golgi complex-dependent Golgi trafficking and homeostasis | Q24680062 | ||
| Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration | Q24681625 | ||
| Golgins and GTPases, giving identity and structure to the Golgi apparatus | Q28258372 | ||
| Golgins in the structure and dynamics of the Golgi apparatus | Q34218887 | ||
| Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. | Q34729925 | ||
| Genetic modulation of senescent phenotypes in Homo sapiens | Q36056305 | ||
| Rab6 regulates transport and targeting of exocytotic carriers | Q40097541 | ||
| Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. | Q51961770 | ||
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | gerodermia osteodysplastica | Q5552374 |
| P304 | page(s) | 1410-2 | |
| P577 | publication date | 2008-12-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin | |
| P478 | volume | 40 |
| Q57023915 | A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation |
| Q39413258 | A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa |
| Q47174767 | A genome-wide study to identify genes responsible for oviduct development in chickens |
| Q24337268 | A newly identified Pirh2 substrate SCYL1-BP1 can bind to MDM2 and accelerate MDM2 self-ubiquitination |
| Q54373301 | A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family. |
| Q55843604 | A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract |
| Q51735780 | A sophisticated, differentiated Golgi in the ancestor of eukaryotes. |
| Q24600509 | Autosomal recessive cutis laxa syndrome revisited |
| Q54381124 | Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients. |
| Q38554818 | Biology and Treatment of Paget's Disease of Bone |
| Q48318063 | Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development |
| Q37642222 | Clinical and Genetic Advances in Paget's Disease of Bone: a Review |
| Q33765177 | Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa |
| Q92204930 | Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review |
| Q28655384 | Cutis laxa: intersection of elastic fiber biogenesis, TGFβ signaling, the secretory pathway and metabolism |
| Q58545518 | De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction |
| Q51804156 | Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. |
| Q92712627 | Defining the clinical phenotype of Saul-Wilson syndrome |
| Q39179278 | Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica |
| Q47376202 | Examining tissue composition, whole-bone morphology and mechanical behavior of GorabPrx1 mice tibiae: A mouse model of premature aging |
| Q84543285 | Further characterization of ATP6V0A2-related autosomal recessive cutis laxa |
| Q55054634 | Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS). |
| Q52866332 | GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. |
| Q89749982 | GORAB promotes embryonic lung maturation through antagonizing AKT phosphorylation, versican expression, and mesenchymal cell migration |
| Q60912723 | GORAB scaffolds COPI at the trans-Golgi for efficient enzyme recycling and correct protein glycosylation |
| Q37968682 | Genetic determinants of Paget's disease of bone |
| Q86747542 | Genetics of Paget's disease of bone |
| Q29417073 | Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. |
| Q56965885 | Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa |
| Q92763241 | Golgi Structure and Function in Health, Stress, and Diseases |
| Q27015433 | Golgi defects enhance APP amyloidogenic processing in Alzheimer's disease |
| Q37895036 | Golgi glycosylation and human inherited diseases |
| Q26766281 | Gorab Is Required for Dermal Condensate Cells to Respond to Hedgehog Signals during Hair Follicle Morphogenesis |
| Q60227664 | Gorab is a Golgi protein required for structure and duplication of Drosophila centrioles |
| Q55560039 | Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype. |
| Q47602229 | Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches |
| Q38136397 | Human diseases associated with form and function of the Golgi complex |
| Q51737164 | Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. |
| Q42752422 | Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome |
| Q85210389 | MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking |
| Q36994689 | Membrane trafficking in osteoblasts and osteoclasts: new avenues for understanding and treating skeletal diseases |
| Q37856837 | Metabolic cutis laxa syndromes |
| Q37253438 | Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2 |
| Q24319369 | Mutations in PYCR1 cause cutis laxa with progeroid features |
| Q34178527 | New components of the Golgi matrix |
| Q36059909 | New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations |
| Q34053627 | New point mutation in Golga3 causes multiple defects in spermatogenesis |
| Q91910292 | Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders |
| Q26824476 | Pathobiology of Paget's Disease of Bone |
| Q37301164 | RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome |
| Q28115510 | Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa |
| Q29616548 | Role of Rab GTPases in membrane traffic and cell physiology |
| Q54166611 | SCY1-Like 1-Binding Protein 1 (SCYL1BP1) Suppressed Sciatic Nerve Regeneration by Enhancing the RhoA Pathway. |
| Q28572542 | SCYL1BP1 modulates neurite outgrowth and regeneration by regulating the Mdm2/p53 pathway |
| Q90253333 | SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy |
| Q27333695 | Scyl1 regulates Golgi morphology |
| Q92763245 | Selected Golgi-Localized Proteins and Carcinogenesis: What Do We Know? |
| Q46007910 | Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. |
| Q36152939 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation |
| Q36913533 | Structural basis of membrane trafficking by Rab family small G protein |
| Q91975620 | The Physiological Functions of the Golgin Vesicle Tethering Proteins |
| Q49105512 | The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2). |
| Q38060078 | The complexity of elastic fiber biogenesis: the paradigm of cutis laxa |
| Q39297198 | The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa |
| Q34994645 | The golgin coiled-coil proteins of the Golgi apparatus |
| Q34263334 | Transcriptional profiling and dynamical regulation analysis identify potential kernel target genes of SCYL1-BP1 in HEK293T cells |
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