Search Results - "Mattei, Genevieve"
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1
MG132‐induced progerin clearance is mediated by autophagy activation and splicing regulation
Published in EMBO molecular medicine (01-09-2017)“…Hutchinson–Gilford progeria syndrome (HGPS) is a lethal premature and accelerated aging disease caused by a de novo point mutation in LMNA encoding A‐type…”
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2
Hes1 is expressed in the second heart field and is required for outflow tract development
Published in PloS one (17-07-2009)“…Rapid growth of the embryonic heart occurs by addition of progenitor cells of the second heart field to the poles of the elongating heart tube. Failure or…”
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3
Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy
Published in Neurobiology of disease (01-04-2010)“…Abstract Spinal muscular atrophy (SMA) is caused by insufficient levels of the survival motor neuron (SMN) protein leading to muscle paralysis and respiratory…”
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4
A New Member of the Rho Family, Rnd1, Promotes Disassembly of Actin Filament Structures and Loss of Cell Adhesion
Published in The Journal of cell biology (06-04-1998)“…Members of the Rho GTPase family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. We have identified three…”
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5
Identification and Characterization of a Novel Siglec, Siglec-7, Expressed by Human Natural Killer Cells and Monocytes
Published in The Journal of biological chemistry (26-11-1999)“…We describe the characterization of sialic acid-binding Ig-like lectin-7 (siglec-7), a novel member of the siglec subgroup of the immunoglobulin superfamily. A…”
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6
Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations
Published in European journal of human genetics : EJHG (01-04-2007)“…Unbalanced translocations, that involve the proximal chromosome 15 long arm and the telomeric region of a partner chromosome, result in a karyotype of 45…”
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7
Identification and Characterization of a Novel Human Matrix Metalloproteinase with Unique Structural Characteristics, Chromosomal Location, and Tissue Distribution
Published in The Journal of biological chemistry (14-02-1997)“…We have cloned a novel member of the matrix metalloproteinase (MMP) family of proteins from a human liver cDNA library. The isolated cDNA contains an open…”
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8
Identification and Characterization of a Widely Expressed Form of Adenylyl Cyclase
Published in The Journal of biological chemistry (07-06-1996)“…A novel mammalian adenylyl cyclase was identified by reverse transcription-polymerase chain reaction amplification using degenerate primers based on a…”
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9
A new Groucho TLE4 protein may regulate the repressive activity of Pax5 in human B lymphocytes
Published in Immunology (01-08-2002)“…Summary During mouse B‐cell development, Pax5 is an essential transcription factor that acts as an activator of B‐cell‐specific genes and as a repressor of…”
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10
The del22q11.2 Candidate Gene Tbx1 Controls Regional Outflow Tract Identity and Coronary Artery Patterning
Published in Circulation research (18-07-2008)“…TBX1, encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and…”
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11
TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution
Published in Chromosome research (01-01-2004)“…TSPY, a candidate gene for a factor that promotes gonadoblastoma formation (GBY), is a testis-specific multicopy gene family in the male-specific region of the…”
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12
Ulip/CRMP proteins are recognized by autoantibodies in paraneoplastic neurological syndromes
Published in The European journal of neuroscience (01-12-1999)“…Anti‐CV2 autoantibodies have recently been discovered in patients with paraneoplastic neurological diseases (PND). These disorders are associated with neuronal…”
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13
A mouse model for hereditary thyroid dysgenesis and cleft palate
Published in Nature genetics (01-08-1998)Get full text
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14
Cloning, chromosomal localization and identification of polymorphisms in the human thyroid transcription factor 2 gene (TITF2)
Published in Biochimie (01-05-1999)“…The human gene encoding the thyroid transcription factor 2 (TTF-2) was cloned and mapped to human chromosome 9q22. Three polymorphisms were identified in the…”
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15
Programmed cell death is affected in the novel mouse mutant Fused toes (Ft)
Published in Development (Cambridge) (01-09-1994)“…We have identified a novel dominant mouse mutant that is characterised by fused toes on the fore limbs and a thymic hyperplasia, in heterozygous animals…”
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16
Identification, characterization and leucocyte expression of Siglec-10, a novel human sialic acid-binding receptor
Published in Biochemical journal (15-04-2001)“…Here we characterize Siglec-10 as a new member of the Siglec family of sialic acid-binding Ig-like lectins. A full-length cDNA was isolated from a human spleen…”
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17
Genomic organization and the tissue distribution of alternatively spliced isoforms of the mouse Spatial gene
Published in BMC genomics (05-07-2004)“…The stromal component of the thymic microenvironment is critical for T lymphocyte generation. Thymocyte differentiation involves a cascade of coordinated…”
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18
A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins
Published in European journal of human genetics : EJHG (01-02-2002)“…Mammalian telomeres are composed of long arrays of TTAGGG repeats that form a nucleoprotein complex which protects the chromosome ends. Human telomere function…”
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19
The chemokine TECK is expressed by thymic and intestinal epithelial cells and attracts double‐ and single‐positive thymocytes expressing the TECK receptor CCR9
Published in European journal of immunology (01-01-2000)“…Chemokines are key regulators of migration in lymphoid tissues. In the thymus, maturing thymocytes move from the outer capsule to the inner medulla and thereby…”
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20
PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase
Published in Journal of cell science (15-06-2006)“…We have recently demonstrated that heterochromatin HP1 proteins are aberrantly distributed in lymphocytes of patients with immunodeficiency, centromeric…”
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