The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome

No abstract is available for this paper.

• Publication year

  1997

• Venue

  Human Genetics

• Publication date

  1997-04-18

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s004390050409PMID 9150721
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Weill-Marchesani syndrome--possible linkage of the autosomal dominant form to 15q21.1.

  1996cited by this paper
• Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.

  1996cited by this paper
• Further Characterization of Proteins Associated with Elastic Fiber Microfibrils Including the Molecular Cloning of MAGP-2 (MP25) (*)

  1996cited by this paper
• The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associated with the Williams syndrome.

  1995cited by this paper
• The question of heterogeneity in Marfan syndrome

  1995cited by this paper
• Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils

  1995cited by this paper
• An STS-Based Map of the Human Genome

  1995cited by this paper
• Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

  1995cited by this paper
• The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients.

  1995cited by this paper
• Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32-q33.2.

  1995cited by this paper
• Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170.

  1995cited by this paper
• Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders.

  1995cited by this paper
• A second locus for Marfan syndrome maps to chromosome 3p24.2–p25

  1994cited by this paper
• Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21.

  1994cited by this paper
• Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms.

  1994cited by this paper
• cDNA from human ocular ciliary epithelium homologous to βig‐h3 is preferentially expressed as an extracellular protein in the corneal epithelium

  1994cited by this paper
• Nonsense-mediated mRNA decay in Xenopus oocytes and embryos.

  1994cited by this paper
• Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.

  1994cited by this paper
• The half-life of c-myc mRNA in growing and serum-stimulated cells: influence of the coding and 3' untranslated regions and role of ribosome translocation

  1994cited by this paper
• Methods in laboratory investigation. Rapid and simple detection of c-Ki-ras2 gene codon 12 mutations by nonradioisotopic single-strand conformation polymorphism analysis.

  1993cited by this paper
• Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains.

  1993cited by this paper
• Characterization of an associated microfibril protein through recombinant DNA techniques.

  1992cited by this paper
• An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids.

  1992cited by this paper
• Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

  1992cited by this paper
• The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

  1991cited by this paper
• Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products.

  1991cited by this paper
• Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

  1991cited by this paper
• Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

  1991cited by this paper
• Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.

  1991cited by this paper
• Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

  1991cited by this paper
• Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

  1991cited by this paper
• Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences.

  1991cited by this paper
• Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

  1991cited by this paper
• Location on chromosome 15 of the gene defect causing Marfan syndrome.

  1990cited by this paper

• Molecular structure and function of microfibrillar‐associated proteins in skeletal and metabolic disorders and cancers

  2020cites this paper
• Evaluation Of Adult Stem Cell Derived Smooth Muscle Cells For Elastic Matrix Regenerative Repair

  2016cites this paper
• New Tricks for “Old” Domains: How Novel Architectures and Promiscuous Hubs Contributed to the Organization and Evolution of the ECM

  2014cites this paper
• Microfibril-Associated Glycoprotein-1 (MAGP-1) and Other Non-fibrillin Macromolecules Which May Possess a Functional Association with the 10 nm Microfibrils

  2013cites this paper
• Advances in biomimetic regeneration of elastic matrix structures

  2012cites this paper
• Systematic Two-Hybrid and Comparative Proteomic Analyses Reveal Novel Yeast Pre-mRNA Splicing Factors Connected to Prp19

  2011cites this paper
• Differential Genetic Regulation of Canine Hip Dysplasia and Osteoarthritis

  2010cites this paper
• Marfan syndrome and its disorder in periodontal tissues.

  2009cites this paper
• Elastic fibres in health and disease

  2006cites this paper
• Fibrillin microfibrils.

  2005cites this paper
• Fibrillin-rich microfibrils: elastic biopolymers of the extracellular matrix

  2004cites this paper
• Examination of the possible role of biologically relevant genes around FBN1 in systemic sclerosis in the Choctaw population.

  2003cites this paper
• Elastic fibres.

  2002cites this paper
• Fibrillin: from domain structure to supramolecular assembly.

  2000cites this paper
• The molecular genetics of Marfan syndrome and related microfibrillopathies

  2000cites this paper
• Microfibrils from the arterial subendothelium.

  1999cites this paper