Citation Impact
Citing Papers
Controlling Macromolecular Topology with Genetically Encoded SpyTag–SpyCatcher Chemistry
2013 StandoutNobel
A Sulfilimine Bond Identified in Collagen IV
2009 StandoutScienceNobel
A Conserved Family of Prolyl-4-Hydroxylases That Modify HIF
2001 StandoutScience
Genetic determinants of hepatic steatosis in man
2011
Transglutaminases in disease
2002
Dimerization of the Extracellular Calcium-sensing Receptor (CaR) on the Cell Surface of CaR-transfected HEK293 Cells
1998
Regulated Expression of Tissue Transglutaminase in Swiss 3T3 Fibroblasts: Effects on the Processing of Fibronectin, Cell Attachment, and Cell Death
1998
Native Recombinant Cyclophilins A, B, and C Degrade DNA Independently of Peptidylprolyl cis-trans-Isomerase Activity
1997
Caenorhabditis elegans sqt‐3 mutants have mutations in the col‐1 collagen gene
1994
WAF1, a potential mediator of p53 tumor suppression
1993 Standout
The cytoplasmic body component TRIM5α restricts HIV-1 infection in Old World monkeys
2004 StandoutNature
A chromosome 17q de novo paracentric inversion in a patient with campomelic dysplasia; case report and etiologic hypothesis
1991
Modulation of the in Situ Activity of Tissue Transglutaminase by Calcium and GTP
1998
Congenital leptin deficiency is associated with severe early-onset obesity in humans
1997 StandoutNature
Thermal stability and folding of the collagen triple helix and the effects of mutations in osteogenesis imperfecta on the triple helix of type I collagen
1993
Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
2000 Standout
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Procollagen N-proteinase and procollagen C-proteinase. Two unusual metalloproteinases that are essential for procollagen processing probably have important roles in development and cell signaling
1998
Dermatosparaxis in children. A case report and review of the newly recognized phenotype
1993
Instability and decay of the primary structure of DNA
1993 StandoutNatureNobel
Cyclophilin and Protein Disulfide Isomerase Genes Are Co-Transcribed in a Functionally Related Manner in Caenorhabditis elegans
1997
Molecular Basis of Vascular Anomalies
1998
Mitochondrial diabetes mellitus: a review
1995
Do bilineal pedigrees represent a problem for linkage analysis? basic principles and simulation results for single‐gene diseases with no heterogeneity
1992
Genetic and Pharmacological Evidence for a Novel, Intermediate Phase of Long-Term Potentiation Suppressed by Calcineurin
1998 StandoutNobel
Ultrastructural organization of type XI collagen in fetal bovine epiphyseal cartilage
1993
The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II
1996
dpy-13: A nematode collagen gene that affects body shape
1988
The CpG dinucleotide and human genetic disease
1988
The rde-1 Gene, RNA Interference, and Transposon Silencing in C. elegans
1999 StandoutNobel
Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents
1992 StandoutNobel
Angiogenesis in cancer and other diseases
2000 StandoutNature
Cell Surface Localization of Tissue Transglutaminase Is Dependent on a Fibronectin-binding Site in Its N-terminal β-Sandwich Domain
1999
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
1998 Standout
Positional cloning of the mouse obese gene and its human homologue
1994 StandoutNature
Tor, a Phosphatidylinositol Kinase Homologue, Controls Autophagy in Yeast
1998 StandoutNobel
A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito
1996
mTOR Signaling in Growth, Metabolism, and Disease
2017 Standout
Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
1993 Standout
Protein folding in a specialized compartment: the endoplasmic reticulum
1999
Crystal structure of the Hhal DNA methyltransferase complexed with S-adenosyl-l-methionine
1993 StandoutNobel
Trans-splicing in C. elegans generates the negative RNAi regulator ERI-6/7
2008 StandoutNatureNobel
Protein folding in the cell
1992 StandoutNature
Obstetrical problems in patients with Ehlers-Danlos syndrome type IV; a case report
1989
Transglutaminases: crosslinking enzymes with pleiotropic functions
2003 Standout
Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis
1992
A Multigene Family Encoding a Diverse Array of Putative Pheromone Receptors in Mammals
1997 StandoutNobel
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
1992
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
2002 Standout
Collagens—structure, function, and biosynthesis
2003 Standout
Fibulin-5/DANCE is essential for elastogenesis in vivo
2002 StandoutNatureNobel
Transglutaminase-mediated cross-linking is involved in the stabilization of extracellular matrix in human liver fibrosis
2001
A Ca2+-Sensing Receptor Mutation Causes Hypoparathyroidism by Increasing Receptor Sensitivity to Ca2+ and Maximal Signal Transduction1
1997
Molecular chaperones in cellular protein folding
1996 StandoutNature
Comparative analysis of collagens solubilized from human foetal, and normal and osteoarthritic adult articular cartilage, with emphasis on type VI collagen
1990
Genetic disorders of the elastic fiber system
2000
A caspase-activated DNase that degrades DNA during apoptosis, and its inhibitor ICAD
1998 StandoutNature
Collagens and collagen-related diseases
2001
Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV
1997
The Human Collagen Mutation Database 1998
1998
A mammalian protein targeted by G1-arresting rapamycin–receptor complex
1994 StandoutNature
Axial structure of the heterotypic collagen fibrils of vitreous humour and cartilage
2001
Triple Helix Formation of Procollagen Type I Can Occur at the Rough Endoplasmic Reticulum Membrane
1996
Sporadic Inclusion Body Myositis Correlates with Increased Expression and Cross-linking by Transglutaminases 1 and 2
2000
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
2004
Collagen Hydroxylases and the Protein Disulfide Isomerase Subunit of Prolyl 4‐Hydroxylases
1998
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
1992
Learning how mutations in type I collagen genes cause connective tissue disease.
1993
Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro alpha 1 (I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule.
1992
In Vivo Imaging of Membrane-Associated Glycans in Developing Zebrafish
2008 StandoutScienceNobel
The human immunodeficiency virus type 1 capsid p2 domain confers sensitivity to the cyclophilin-binding drug SDZ NIM 811
1996
A substitution of cysteine for glycine 748 of the alpha 1 chain produces a kink at this site in the procollagen I molecule and an altered N-proteinase cleavage site over 225 nm away.
1988
Reconstitution of I KATP : An Inward Rectifier Subunit Plus the Sulfonylurea Receptor
1995 StandoutScience
Cell Biology and Biochemistry of Endochondral Bone Development
1981
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).
1989
Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy
1995 Science
Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.
1992
In Vivo Recognition of a Vertebrate Mini-Exon as an Exon-Intron-Exon Unit
1993
Protein Crosslinking in Assembly and Remodelling of Extracellular Matrices: The Role of Transglutaminases
2000
Biomedical and Biotechnological Applications of Elastin-Like Polypeptides
2007
Targeted Disruption of Decorin Leads to Abnormal Collagen Fibril Morphology and Skin Fragility
1997 Standout
Differential expression of a cysteine-rich domain in the amino-terminal propeptide of type II (cartilage) procollagen by alternative splicing of mRNA.
1990
Ehlers-Danlos syndrome type VIII
1981
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
1985
Targets for Cell Cycle Arrest by the Immunosuppressant Rapamycin in Yeast
1991 StandoutScience
Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A
1986 StandoutNature
Bone Biology
1995
Occurrence in chick embryo vitreous humor of a type IX collagen proteoglycan with an extraordinarily large chondroitin sulfate chain and short alpha 1 polypeptide.
1990
Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage.
1989 StandoutNobel
Putative pheromone receptors related to the Ca 2+ -sensing receptor in Fugu
1998 StandoutNobel
Intracellular Functions of N-Linked Glycans
2001 StandoutScience
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic Heterogeneity
1994
Novel Regulators of Bone Formation: Molecular Clones and Activities
1988 StandoutScience
Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring.
1993
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
1992
In vivo recognition of a vertebrate mini-exon as an exon-intron-exon unit.
1993
Genetic Dissection of Complex Traits
1994 StandoutScience
The Role of DNA Methylation in Mammalian Epigenetics
2001 StandoutScience
Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta.
1991
Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section.
1992
Two functionally dependent acetylcholine subunits are encoded in a single Caenorhabditis elegans operon
1998 StandoutNobel
Human Fatty Liver Disease: Old Questions and New Insights
2011 StandoutScience
Analysis of the promoter region and the N-propeptide domain of the human proα2(I) collagen gene
1985
Marrow Stromal Cells as Stem Cells for Nonhematopoietic Tissues
1997 StandoutScience
Allosteric activation of the CaR by l -amino acids
2000 StandoutNobel
Peptidyl‐Prolyl cis/trans Isomerases and Their Effectors
1994
An endoplasmic reticulum-specific cyclophilin.
1991
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
2006 StandoutScience
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes
1985
Photopharmacology: Beyond Proof of Principle
2014 StandoutNobel
Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review
2006
A New Approach to Mineralization of Biocompatible Hydrogel Scaffolds: An Efficient Process toward 3-Dimensional Bonelike Composites
2003 StandoutNobel
A Morphologic Study of a Mild Form of Ovine Dermatosparaxis
1985
Structure of the Sec23p/24p and Sec13p/31p complexes of COPII
2001 StandoutNobel
Peptidyl prolyl cis-trans isomerase activity of cyclophilin A in functional homo-oligomeric receptor expression
1997
Cyclophilin 20 Is Involved in Mitochondrial Protein Folding in Cooperation with Molecular Chaperones Hsp70 and Hsp60
1995
Crystal and Molecular Structure of a Collagen-Like Peptide at 1.9 Å Resolution
1994 StandoutScience
Collagen fibril formation
1996 Standout
Works of B Steinmann being referenced
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII
1989
Persistence of the intestinal defect in abetalipoproteinaemia after liver transplantation
1998
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
1997
Molecular nosology of heritable disorders of connective tissue
1992
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA
1993
Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5
1992
Cross-linking of the dermo-epidermal junction of skin regenerating from keratinocyte autografts. Anchoring fibrils are a target for tissue transglutaminase.
1996
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.
1994
Brittle cornea syndrome: An heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation
1990
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.
1986
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
1999
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
1991
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.
1984
Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
1997
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.
1988
The structure of human collagen type IX and its organization in fetal and infant cartilage fibrils.
1988
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
1991
In vivo and in vitro noncovalent association of excised alpha 1 (I) amino-terminal propeptides with mutant pN alpha 2(I) collagen chains in native mutant collagen in a case of Ehlers-Danlos syndrome, type VII.
1990
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.
1991
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
1988
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.
1991
Changes in synthesis of types-I and -III collagen during matrix-induced endochondral bone differentiation in rat
1980
Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.
1986
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
1991
Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.
1989
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.
1991
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.
1980
Ehlers-Danlos syndrome type VIIB. Morphology of type I collagen fibrils formed in vivo and in vitro is determined by the conformation of the retained N-propeptide
1993
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemia.
1984
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.
1979
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.
1987