Standout Papers
Citation Impact
Citing Papers
In vitro reconstitution of ER-stress induced ATF6 transport in COPII vesicles
2009 StandoutNobel
Interaction of Hydroxylated Collagen IV with the von Hippel-Lindau Tumor Suppressor
2007 StandoutNobel
The DNA-damage response in human biology and disease
2009 StandoutNature
(CAG)n-hairpin DNA binds to Msh2–Msh3 and changes properties of mismatch recognition
2005
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome
1999
TRAPP complexes in membrane traffic: convergence through a common Rab
2010
Inflammation and metabolic disorders
2006 StandoutNature
Gout-associated uric acid crystals activate the NALP3 inflammasome
2006 StandoutNature
Introducing sense into nonsense in treatments of human genetic diseases
2008
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
Targeted Disruption of Results in a Complete Lack of Bone Formation owing to Maturational Arrest of Osteoblasts
1997 Standout
Intracellular trafficking and degradation of unassociated proα2 chains of collagen type I
2004
Traffic Jam: A Compendium of Human Diseases that Affect Intracellular Transport Processes
2000
ER protein quality control and proteasome-mediated protein degradation
1999
Wound repair and regeneration
2008 StandoutNature
Cancer Metastasis: Building a Framework
2006 Standout
The Mechanical Properties of Skin in Osteogenesis Imperfecta
2002
Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks
2009 StandoutNobel
Cleidocranial Dysplasia in Mice
1996
Systemic Fluorescence Imaging of Zebrafish Glycans with Bioorthogonal Chemistry
2015 StandoutNobel
Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
1997 Standout
The genetic transformation of bone biology
1999
Tumor Metastasis: Molecular Insights and Evolving Paradigms
2011 Standout
Collagens, modifying enzymes and their mutations in humans, flies and worms
2003
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
1997 Standout
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Osf2/Cbfa1: A Transcriptional Activator of Osteoblast Differentiation
1997 Standout
Developmental regulation of the growth plate
2003 StandoutNature
Proteasomal Degradation of Unassembled Mutant Type I Collagen Pro-α1(I) Chains
1999
TANGO1 Facilitates Cargo Loading at Endoplasmic Reticulum Exit Sites
2009 StandoutNobel
OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
2007 Nature
Intrinsic Immunity Shapes Viral Resistance of Stem Cells
2017 StandoutNobel
The Adaptor Function of TRAPPC2 in Mammalian TRAPPs Explains TRAPPC2-Associated SEDT and TRAPPC9-Associated Congenital Intellectual Disability
2011
The Novel Zinc Finger-Containing Transcription Factor Osterix Is Required for Osteoblast Differentiation and Bone Formation
2002 Standout
A Membrane-proximal Basic Domain and Cysteine Cluster in the C-terminal Tail of CCR5 Constitute a Bipartite Motif Critical for Cell Surface Expression
2001 StandoutNobel
A long noncoding RNA maintains active chromatin to coordinate homeotic gene expression
2011 StandoutNature
From endoplasmic-reticulum stress to the inflammatory response
2008 StandoutNature
Structure of the TRPV1 ion channel determined by electron cryo-microscopy
2013 StandoutNatureNobel
Essential role for the alpha 1 chain of type VIII collagen in Zebrafish notochord formation
2008
Surviving Endoplasmic Reticulum Stress Is Coupled to Altered Chondrocyte Differentiation and Function
2007
Brittle bones - fragile molecules: disorders of collagen gene structure and expression
1990
A Fresh Look at iPS Cells
2009 StandoutNobel
Features of trinucleotide repeat instability in vivo
2008
Nonsense-mediated mRNA decayin health and disease
1999
Receptor-mediated protein transport in the early secretory pathway
2007
Points of control in inflammation
2002 StandoutNature
The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism
2009 Standout
The TNF and TNF Receptor Superfamilies
2001 Standout
Lysine Hydroxylation and Crosslinking of Collagen
2003
Gene Expression Signature of Fibroblast Serum Response Predicts Human Cancer Progression: Similarities between Tumors and Wounds
2004
Interleukin-4 Receptor α Signaling in Myeloid Cells Controls Collagen Fibril Assembly in Skin Repair
2015
mTORC1 phosphorylates LARP6 to stimulate type I collagen expression
2017
Matrix Crosslinking Forces Tumor Progression by Enhancing Integrin Signaling
2009 Standout
Elevated formation of pyridinoline cross-links by profibrotic cytokines is associated with enhanced lysyl hydroxylase 2b levels
2004
Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesis
2010
TNFRSF1A mutations and autoinflammatory syndromes
2000
Atg9 Vesicles Recruit Vesicle-tethering Proteins Trs85 and Ypt1 to the Autophagosome Formation Site
2012 StandoutNobel
Nuclear reprogramming to a pluripotent state by three approaches
2010 StandoutNatureNobel
Nuclear Reprogramming in Cells
2008 StandoutScienceNobel
The Osteoblast: A Sophisticated Fibroblast under Central Surveillance
2000 Science
The distal arthrogryposes: Delineation of new entities – review and nosologic discussion
1982
Role of Rab GTPases in Membrane Traffic and Cell Physiology
2011
Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of α1-antitrypsin
2011 StandoutNobel
Lysine post-translational modifications of collagen
2012
Interactions Between the Microbiota and the Immune System
2012 StandoutScience
Bone Resorption by Osteoclasts
2000 StandoutScience
C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking
2011
Posttranslational hydroxylation of ankyrin repeats in IκB proteins by the hypoxia-inducible factor (HIF) asparaginyl hydroxylase, factor inhibiting HIF (FIH)
2006 StandoutNobel
Bone biology. II: Formation, form, modeling, remodeling, and regulation of cell function.
1996
Bone Biology
1995
OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES
1986
Recent Stem Cell Advances: Induced Pluripotent Stem Cells for Disease Modeling and Stem Cell–Based Regeneration
2010 StandoutNobel
The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation
2011 StandoutScience
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
THE MAMMALIAN UNFOLDED PROTEIN RESPONSE
2005 Standout
The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands
2005
Specific inhibition of gene expression by small double-stranded RNAs in invertebrate and vertebrate systems
2001 StandoutNobel
Endocrinopathies in the Family of Endoplasmic Reticulum (ER) Storage Diseases: Disorders of Protein Trafficking and the Role of ER Molecular Chaperones*
1998
Adapting Proteostasis for Disease Intervention
2008 StandoutScience
Hydroxylation of the eukaryotic ribosomal decoding center affects translational accuracy
2014 StandoutNobel
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Studies of the HER-2/ neu Proto-Oncogene in Human Breast and Ovarian Cancer
1989 StandoutScience
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Inflammation and metabolism in tissue repair and regeneration
2017 StandoutScience
Structural and Biochemical Consequences of Disease-Causing Mutations in the Ankyrin Repeat Domain of the Human TRPV4 Channel
2012
A New Approach to Mineralization of Biocompatible Hydrogel Scaffolds: An Efficient Process toward 3-Dimensional Bonelike Composites
2003 StandoutNobel
Chemical Glycoproteomics
2016 StandoutNobel
Works of David Sillence being referenced
Diverse requirements for Notch signalling in mammals
2002
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
2011
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
1999
α-l-Iduronidase Premature Stop Codons and Potential Read-Through in Mucopolysaccharidosis Type I Patients
2004
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
1995
A nonsense mutation in the carboxyl-terminal domain of type X collagen causes haploinsufficiency in schmid metaphyseal chondrodysplasia.
1998
Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13
1998
Endoplasmic Reticulum-mediated Quality Control of Type I Collagen Production by Cells from Osteogenesis Imperfecta Patients with Mutations in the proα1(I) Chain Carboxyl-terminal Propeptide which Impair Subunit Assembly
1995
Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis
2003
Animal model: Skeletal anomalies in mice with cleidocranial dysplasia
1987
Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.
1978
Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape.
2008
Osteogenesis Imperfecta
1981
Contribution of DNA Sequence and CAG Size to Mutation Frequencies of Intermediate Alleles for Huntington Disease: Evidence from Single Sperm Analyses
1997
Genetic heterogeneity in osteogenesis imperfecta.
1979 Standout
Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type
1996