4.7 Review

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

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

Marco Ritelli et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Review Ophthalmology

A review of keratoconus: Diagnosis, pathophysiology, and genetics

Veronica Mas Tur et al.

SURVEY OF OPHTHALMOLOGY (2017)

Article Multidisciplinary Sciences

Structural basis of homo- and heterotrimerization of collagen I

Urvashi Sharma et al.

NATURE COMMUNICATIONS (2017)

Article Medicine, General & Internal

Osteogenesis imperfecta

Joan C. Marini et al.

NATURE REVIEWS DISEASE PRIMERS (2017)

Review Medicine, General & Internal

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

Ellie Rashidghamat et al.

INTRACTABLE & RARE DISEASES RESEARCH (2017)

Article Genetics & Heredity

The 2017 International Classification of the Ehlers-Danlos Syndromes

Fransiska Malfait et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2017)

Letter Genetics & Heredity

Pathogenenic Variant in the COL2A1 Gene is Associated with Spondyloepiphyseal Dysplasia Type Stanescu

Anna Hammarsjo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Genetics & Heredity

The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations

Andreas R. Janecke et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Review Genetics & Heredity

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies

Mouna Barat-Houari et al.

HUMAN MUTATION (2016)

Review Clinical Neurology

Genetic risk factors for spontaneous intracerebral haemorrhage

Amanda M. Carpenter et al.

NATURE REVIEWS NEUROLOGY (2016)

Article Endocrinology & Metabolism

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

Nadja Fratzl-Zelman et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Genetics & Heredity

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

Jameela M. A. Shinwari et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

Roberto Mendoza-Londono et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

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

Michael Zech et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Endocrinology & Metabolism

Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation

Hossein Moravej et al.

ENDOKRYNOLOGIA POLSKA (2015)

Article Multidisciplinary Sciences

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

Lavinia Arseni et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)

Article Dermatology

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

Ercan Caliskan et al.

INTERNATIONAL JOURNAL OF DERMATOLOGY (2015)

Review Clinical Neurology

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

Takahiro Yonekawa et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2015)

Review Cell & Tissue Engineering

TGF-β/BMP signaling and other molecular events: regulation of osteoblastogenesis and bone formation

Md Shaifur Rahman et al.

BONE RESEARCH (2015)

Review Ophthalmology

Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature

Georgia Avgitidou et al.

CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE (2015)

Article Engineering, Biomedical

Hyaluronan: A simple polysaccharide with diverse biological functions

Kevin T. Dicker et al.

ACTA BIOMATERIALIA (2014)

Article Genetics & Heredity

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

F. S. Van Dijk et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Biochemistry & Molecular Biology

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

Simone Rost et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2014)

Article Dermatology

Matricryptins and matrikines: biologically active fragments of the extracellular matrix

Sylvie Ricard-Blum et al.

EXPERIMENTAL DERMATOLOGY (2014)

Article Ophthalmology

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

Juan C. Zenteno et al.

GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2014)

Review Cell Biology

Remodelling the extracellular matrix in development and disease

Caroline Bonnans et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2014)

Article Genetics & Heredity

De Novo Mutations in Moderate or Severe Intellectual Disability

Fadi F. Hamdan et al.

PLOS GENETICS (2014)

Article Clinical Neurology

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

Yuriko Yoneda et al.

ANNALS OF NEUROLOGY (2013)

Article Biochemistry & Molecular Biology

Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural EhlersDanlos syndrome

Thomas Mueller et al.

HUMAN MOLECULAR GENETICS (2013)

Article Urology & Nephrology

Pregnancy in women with Alport syndrome

Francesca Crovetto et al.

INTERNATIONAL UROLOGY AND NEPHROLOGY (2013)

Review Biochemistry & Molecular Biology

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

Hsueh-Liang Fu et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Review Urology & Nephrology

Alport syndrome-insights from basic and clinical research

Jenny Kruegel et al.

NATURE REVIEWS NEPHROLOGY (2013)

Article Cell Biology

The laminin family

Monique Aumailley

CELL ADHESION & MIGRATION (2013)

Review Immunology

Metalloproteinases and their natural inhibitors in inflammation and immunity

Rama Khokha et al.

NATURE REVIEWS IMMUNOLOGY (2013)

Article Genetics & Heredity

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

Matthias Baumann et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

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

Stuart W. Tompson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Dermatology

Inherited epidermolysis bullosa: New diagnostic criteria and classification

Lizbeth R. A. Intong et al.

CLINICS IN DERMATOLOGY (2012)

Article Biochemical Research Methods

The Matrisome: In Silico Definition and In Vivo Characterization by Proteomics of Normal and Tumor Extracellular Matrices

Alexandra Naba et al.

MOLECULAR & CELLULAR PROTEOMICS (2012)

Review Biochemistry & Molecular Biology

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

Diego Sbardella et al.

MOLECULAR ASPECTS OF MEDICINE (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Cell Biology

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

Richard O. Hynes et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)

Article Genetics & Heredity

A Novel Mutation in PYCR1 Causes an Autosomal Recessive Cutis Laxa With Premature Aging Features in a Family

Dar-Shong Lin et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Genetics & Heredity

A Loss of Function Mutation in the COL9A2 Gene Cause Autosomal Recessive Stickler Syndrome

Stuart Baker et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Biochemistry & Molecular Biology

Matricryptins derived from collagens and proteoglycans

Sylvie Ricard-Blum et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2011)

Article Biochemistry & Molecular Biology

The Non-phagocytic Route of Collagen Uptake A DISTINCT DEGRADATION PATHWAY

Daniel H. Madsen et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2011)

Article Endocrinology & Metabolism

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

Brian P. Kelley et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2011)

Article Dermatology

Fibronectin Growth Factor-Binding Domains Are Required for Fibroblast Survival

Fubao Lin et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2011)

Article Cell Biology

The Collagen Family

Sylvie Ricard-Blum

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)

Article Cell Biology

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

John S. Munger et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)

Article Cell Biology

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

Nicholas H. Brown

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)

Article Cell Biology

Molecular Architecture and Function of Matrix Adhesions

Benjamin Geiger et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2011)

Article Ophthalmology

Autosomal Recessive Stickler Syndrome in Two Families Is Caused by Mutations in the COL9A1 Gene

Konstantinos Nikopoulos et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Article Genetics & Heredity

Recurrence of Achondrogenesis Type 2 in Sibs: Additional Evidence for Germline Mosaicism

Jessica M. Comstock et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Article Genetics & Heredity

Novel COL4A1 Mutations Associated With HANAC Syndrome: A Role for the Triple Helical CB3[IV] Domain

Emmanuelle Plaisier et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Review Cell Biology

Assembly of Fibronectin Extracellular Matrix

Purva Singh et al.

ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY, VOL 26 (2010)

Review Biochemistry & Molecular Biology

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

Alison Aiken et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2010)

Article Genetics & Heredity

Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness

P. Beighton et al.

CLINICAL GENETICS (2010)

Review Genetics & Heredity

Trichothiodystrophy: From basic mechanisms to clinical implications

M. Stefanini et al.

DNA REPAIR (2010)

Article Cell Biology

The extracellular matrix at a glance

Christian Frantz et al.

JOURNAL OF CELL SCIENCE (2010)

Article Urology & Nephrology

Genotype-Phenotype Correlation in X-Linked Alport Syndrome

Mir Reza Bekheirnia et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)

Review Cell Biology

Regulation of cell signalling by uPAR

Harvey W. Smith et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)

Article Medicine, General & Internal

E2-2 Protein and Fuchs's Corneal Dystrophy

Keith H. Baratz et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Cell Biology

Cell-Matrix Interactions in Mammary Gland Development and Breast Cancer

John Muschler et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2010)

Article Genetics & Heredity

PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Biochemistry & Molecular Biology

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

Eric A. Klein et al.

CURRENT BIOLOGY (2009)

Review Biochemistry & Molecular Biology

Role, Metabolism, Chemical Modifications and Applications of Hyaluronan

Nicola Volpi et al.

CURRENT MEDICINAL CHEMISTRY (2009)

Article Cell Biology

Extracellular microfibrils: contextual platforms for TGFβ and BMP signaling

Francesco Ramirez et al.

CURRENT OPINION IN CELL BIOLOGY (2009)

Article Biochemistry & Molecular Biology

Autosomal recessive cutis laxa syndrome revisited

Eva Morava et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2009)

Review Cell Biology

Adhesion signaling - crosstalk between integrins, Src and Rho

Stephan Huveneers et al.

JOURNAL OF CELL SCIENCE (2009)

Review Pharmacology & Pharmacy

Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy

Hannu Jarvelainen et al.

PHARMACOLOGICAL REVIEWS (2009)

Review Multidisciplinary Sciences

The Extracellular Matrix: Not Just Pretty Fibrils

Richard O. Hynes

SCIENCE (2009)

Article Cell Biology

Shaping Morphogen Gradients by Proteoglycans

Dong Yan et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2009)

Review Genetics & Heredity

De Barsy syndrome: a review of the phenotype

Emma C. Kivuva et al.

CLINICAL DYSMORPHOLOGY (2008)

Article Dentistry, Oral Surgery & Medicine

Infantile cortical hyperostosis (Caffey disease): A review

Agnes Kamoun-Goldrat et al.

JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY (2008)

Article Clinical Neurology

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

L. Merlini et al.

NEUROLOGY (2008)

Review Biochemistry & Molecular Biology

Hyaluronan synthesis and degradation in cartilage and bone

E. R. Bastow et al.

CELLULAR AND MOLECULAR LIFE SCIENCES (2008)

Review Oncology

The ADAMs: signalling scissors in the tumour microenvironment

Gillian Murphy

NATURE REVIEWS CANCER (2008)

Article Biochemistry & Molecular Biology

Czech dysplasia metatarsal type: another type II collagen disorder

Kristien P. Hoornaert et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2007)

Article Biochemistry & Molecular Biology

Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis

Cilla Soderhall et al.

PLOS BIOLOGY (2007)

Article Radiology, Nuclear Medicine & Medical Imaging

Osteonecrosis of the femoral head: Etiology, imaging and treatment

Konstantinos N. Malizos et al.

EUROPEAN JOURNAL OF RADIOLOGY (2007)

Review Biochemistry & Molecular Biology

Hyaluronan

A. Almond

CELLULAR AND MOLECULAR LIFE SCIENCES (2007)

Review Cell Biology

The extracellular matrix and blood vessel formation: not just a scaffold

John M. Rhodes et al.

JOURNAL OF CELLULAR AND MOLECULAR MEDICINE (2007)

Review Oncology

Cysteine cathepsins: multifunctional enzymes in cancer

Mona Mostafa Mohamed et al.

NATURE REVIEWS CANCER (2006)

Review Biochemistry & Molecular Biology

Regulation, function and clinical significance of heparanase in cancer metastasis and angiogenesis

Neta Ilan et al.

INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY (2006)

Article Oncology

Tensional homeostasis and the malignant phenotype

MJ Paszek et al.

CANCER CELL (2005)

Article Genetics & Heredity

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations -: Findings in 10 patients

O Mäkitie et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Ophthalmology

Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of Fuchs corneal dystrophy

JD Gottsch et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)

Review Biochemistry & Molecular Biology

Physiological role of collagen XVIII and endostatin

AG Marneros et al.

FASEB JOURNAL (2005)

Article Clinical Neurology

Schizencephaly: Clinical spectrum, epilepsy, and pathogenesis

T Granata et al.

JOURNAL OF CHILD NEUROLOGY (2005)

Review Cell Biology

Procollagen trafficking, processing and fibrillogenesis

EG Canty et al.

JOURNAL OF CELL SCIENCE (2005)

Review Biochemistry & Molecular Biology

Collectins - Players of the innate immune system

JK van de Wetering et al.

EUROPEAN JOURNAL OF BIOCHEMISTRY (2004)

Article Genetics & Heredity

Czech dysplasia metatarsal type

K Kozlowski et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Article Biochemistry & Molecular Biology

The shed ectodomain of type XIII collagen affects cell behaviour in a matrix-dependent manner

MR Väisänen et al.

BIOCHEMICAL JOURNAL (2004)

Article Genetics & Heredity

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63:: Odontotrichomelic syndrome or a new entity?

A Zankl et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Article Genetics & Heredity

Alport syndrome with diffuse leiomyomatosis

MC Anker et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

Article Biochemistry & Molecular Biology

Collagenous transmembrane proteins: collagen XVII as a prototype

CW Franzke et al.

MATRIX BIOLOGY (2003)

Article Biochemistry & Molecular Biology

Structure of homo- and hetero-oligomeric meprin metalloproteases - Dimers, tetramers, and high molecular mass multimers

GP Bertenshaw et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Genetics & Heredity

A mutation in COL9A1 causes multiple epiphyseal dysplasia:: Further evidence for locus heterogeneity

M Czarny-Ratajczak et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2001)