From Structure to Phenotype: Impact of Collagen Alterations on Human Health

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

(2017) Marco Ritelli et al.   Orphanet Journal of Rare Diseases

A review of keratoconus: Diagnosis, pathophysiology, and genetics

(2017) Veronica Mas Tur et al.   SURVEY OF OPHTHALMOLOGY

Structural basis of homo- and heterotrimerization of collagen I

(2017) Urvashi Sharma et al.   Nature Communications

Osteogenesis imperfecta

(2017) Joan C. Marini et al.   Nature Reviews Disease Primers

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

(2016) Nadja Fratzl-Zelman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

(2016) Verity F. Oliver et al.   OPHTHALMOLOGY

Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

(2015) Jameela M.A. Shinwari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

(2015) Björn Fischer-Zirnsak et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

(2015) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

(2015) Michael Zech et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenenic variant in theCOL2A1gene is associated with Spondyloepiphyseal dysplasia type Stanescu

(2015) Anna Hammarsjö et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due toCHST14mutations

(2015) Andreas R. Janecke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Zespół Brucka — rzadki zespół charakteryzujący się kruchością kości, przykurczami stawowymi i nowoodkrytą homozygotyczną mutacją FKBP10

(2015) Hossein Moravej et al.   Endokrynologia Polska

Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies

(2015) Mouna Barat-Houari et al.   HUMAN MUTATION

Genetic risk factors for spontaneous intracerebral haemorrhage

(2015) Amanda M. Carpenter et al.   Nature Reviews Neurology

TFIIH-dependentMMP-1overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin

(2015) Lavinia Arseni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Matricryptins and matrikines: biologically active fragments of the extracellular matrix

(2014) Sylvie Ricard-Blum et al.   EXPERIMENTAL DERMATOLOGY

Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

(2014) Juan C. Zenteno et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

A case of Marshall's syndrome and review of the literature

(2014) Ercan Çalışkan et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s)

(2014) T. Yonekawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Comparison of the impact of open and endovascular abdominal aortic aneurysm repair on renal function

(2014) Athanasios Saratzis et al.   JOURNAL OF VASCULAR SURGERY

Remodelling the extracellular matrix in development and disease

(2014) Caroline Bonnans et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

Hyaluronan: A simple polysaccharide with diverse biological functions

(2013) Kevin T. Dicker et al.   Acta Biomaterialia

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

(2013) Simone Rost et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome

(2013) Thomas Müller et al.   HUMAN MOLECULAR GENETICS

Discoidin Domain Receptors: Unique Receptor Tyrosine Kinases in Collagen-mediated Signaling

(2013) Hsueh-Liang Fu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Collagen remodeling by phagocytosis is determined by collagen substrate topology and calcium-dependent interactions of gelsolin with nonmuscle myosin IIA in cell adhesions

(2013) P. D. Arora et al.   MOLECULAR BIOLOGY OF THE CELL

The laminin family

(2013) Monique Aumailley   Cell Adhesion & Migration

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

(2012) Matthias Baumann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2

(2012) Stuart W. Tompson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly

(2012) Yuriko Yoneda et al.   ANNALS OF NEUROLOGY

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression

(2012) D. Orioli et al.   HUMAN MOLECULAR GENETICS

Pregnancy in women with Alport syndrome

(2012) Francesca Crovetto et al.   INTERNATIONAL UROLOGY AND NEPHROLOGY

Alport syndrome—insights from basic and clinical research

(2012) Jenny Kruegel et al.   Nature Reviews Nephrology

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Target-Derived Matricryptins Organize Cerebellar Synapse Formation through α3β1 Integrins

(2012) Jianmin Su et al.   Cell Reports

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

(2011) Dar-Shong Lin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

(2011) Stuart Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Inherited epidermolysis bullosa: New diagnostic criteria and classification

(2011) Lizbeth R.A. Intong et al.   CLINICS IN DERMATOLOGY

Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations

(2011) Mohammed A. Aldahmesh et al.   GENETICS IN MEDICINE

The Non-phagocytic Route of Collagen Uptake

(2011) Daniel H. Madsen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Extracellular matrix and cell signalling: the dynamic cooperation of integrin, proteoglycan and growth factor receptor

(2011) Soo-Hyun Kim et al.   JOURNAL OF ENDOCRINOLOGY

Steel Syndrome: Dislocated Hips and Radial Heads, Carpal Coalition, Scoliosis, Short Stature, and Characteristic Facial Features

(2011) John M. Flynn et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

The Matrisome:In SilicoDefinition andIn VivoCharacterization by Proteomics of Normal and Tumor Extracellular Matrices

(2011) Alexandra Naba et al.   MOLECULAR & CELLULAR PROTEOMICS

Human matrix metalloproteinases: An ubiquitarian class of enzymes involved in several pathological processes

(2011) Diego Sbardella et al.   MOLECULAR ASPECTS OF MEDICINE

Cross Talk among TGF-  Signaling Pathways, Integrins, and the Extracellular Matrix

(2011) J. S. Munger et al.   Cold Spring Harbor Perspectives in Biology

Extracellular Matrix in Development: Insights from Mechanisms Conserved between Invertebrates and Vertebrates

(2011) N. H. Brown   Cold Spring Harbor Perspectives in Biology

Molecular Architecture and Function of Matrix Adhesions

(2011) B. Geiger et al.   Cold Spring Harbor Perspectives in Biology

Overview of the Matrisome--An Inventory of Extracellular Matrix Constituents and Functions

(2011) R. O. Hynes et al.   Cold Spring Harbor Perspectives in Biology

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

(2010) Jessica M. Comstock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel COL4A1 mutations associated with HANAC syndrome: A role for the triple helical CB3[IV] domain

(2010) Emmanuelle Plaisier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

(2010) Gail C. Jackson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Assembly of Fibronectin Extracellular Matrix

(2010) Purva Singh et al.   Annual Review of Cell and Developmental Biology

Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness

(2010) P. Beighton et al.   CLINICAL GENETICS

Matricryptins derived from collagens and proteoglycans

(2010) Sylvie Ricard-Blum   Frontiers in Bioscience-Landmark

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The extracellular matrix at a glance

(2010) C. Frantz et al.   JOURNAL OF CELL SCIENCE

Fibronectin Growth Factor-Binding Domains Are Required for Fibroblast Survival

(2010) Fubao Lin et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Genotype-Phenotype Correlation in X-Linked Alport Syndrome

(2010) M. R. Bekheirnia et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease

(2010) Silvia Lanfranconi et al.   STROKE

The Collagen Family

(2010) S. Ricard-Blum   Cold Spring Harbor Perspectives in Biology

Cell-Matrix Interactions in Mammary Gland Development and Breast Cancer

(2010) J. Muschler et al.   Cold Spring Harbor Perspectives in Biology

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unraveling metalloproteinase function in skeletal biology and disease using genetically altered mice

(2009) Alison Aiken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

De Barsy syndrome: a review of the phenotype

(2009) Emma C. Kivuva et al.   CLINICAL DYSMORPHOLOGY

Cell-Cycle Control by Physiological Matrix Elasticity and In Vivo Tissue Stiffening

(2009) Eric A. Klein et al.   CURRENT BIOLOGY

Role, Metabolism, Chemical Modifications and Applications of Hyaluronan

(2009) Nicola Volpi et al.   CURRENT MEDICINAL CHEMISTRY

Extracellular microfibrils: contextual platforms for TGFβ and BMP signaling

(2009) Francesco Ramirez et al.   CURRENT OPINION IN CELL BIOLOGY

Trichothiodystrophy: From basic mechanisms to clinical implications

(2009) M. Stefanini et al.   DNA REPAIR

Autosomal recessive cutis laxa syndrome revisited

(2009) Éva Morava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Disintegrin-like and Metalloprotease (Reprolysin-type) with Thrombospondin Type 1 Motif (ADAMTS) Superfamily: Functions and Mechanisms

(2009) Suneel S. Apte   JOURNAL OF BIOLOGICAL CHEMISTRY

Adhesion signaling - crosstalk between integrins, Src and Rho

(2009) S. Huveneers et al.   JOURNAL OF CELL SCIENCE

Regulation of cell signalling by uPAR

(2009) Harvey W. Smith et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy

(2009) H. Jarvelainen et al.   PHARMACOLOGICAL REVIEWS

The Extracellular Matrix: Not Just Pretty Fibrils

(2009) R. O. Hynes   SCIENCE

Shaping Morphogen Gradients by Proteoglycans

(2009) D. Yan et al.   Cold Spring Harbor Perspectives in Biology

Infantile Cortical Hyperostosis (Caffey Disease): A Review

(2008) Agnès Kamoun-Goldrat et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

β1 Integrin deletion from the basal compartment of the mammary epithelium affects stem cells

(2008) Ilaria Taddei et al.   NATURE CELL BIOLOGY

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

(2008) L. Merlini et al.   NEUROLOGY

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

(2007) Audrey McAlinden et al.   HUMAN MUTATION

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

(2007) Matthias Titeux et al.   HUMAN MUTATION

Common Interruptions in the Repeating Tripeptide Sequence of Non-fibrillar Collagens: Sequence Analysis and Structural Studies on Triple-helix Peptide Models

(2007) Geetha Thiagarajan et al.   JOURNAL OF MOLECULAR BIOLOGY