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Results: 1693  publications found.

Bessi, .  et al. 2009

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases

Cerebral proliferative glomeruloid vasculopathy (PGV) is a severe disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels, forming glomeruloids with...
Eur J Med Genet - issue: 6 - volume: 52 - pages: 386-392.

Mellgren, RL.  et al. 2009

Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases

Mechanically damaged plasma membrane undergoes rapid calcium-dependent resealing that appears to depend, at least in part, on calpain-mediated cortical cytoskeletal remodeling. Cells null for Capns1,...
Biochim. Biophys. Acta-Mol. Cell Res. - issue: 12 - volume: 1793 - pages: 1886-1893.

Gaudy-Marqueste, C.  et al. 2009

LMNA, ZMPSTE24, and LBR are not mutated in scleroderma

Scleroderma is a rare multisystemic disease of unknown etiology presumed to develop in genetically predisposed patients. Since patients affected with scleroderma develop clinical features similar to...
Genet Test Mol Biomarkers - issue: 5 - volume: 13 - pages: 635-639.

Ottaviani, A.  et al. 2009

Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF

The localization of genes within the nuclear space is of paramount importance for proper genome functions. However, very little is known on the cis-acting elements determining subnuclear positioning...
EMBO J. - issue: 16 - volume: 28 - pages: 2428-2436.

de Pontual, L.  et al. 2009

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either...
Proc. Natl. Acad. Sci. U.S.A. - issue: 33 - volume: 106 - pages: 13921-13926.

Serradj, N.  et al. 2009

The adaptation of limb kinematics to increasing walking speeds in freely moving mice 129/Sv and C57BL/6

The kinematics of locomotion was analyzed in two strains of great importance for the creation of mutated mice (C56BL/6 and 129/Sv). Different behavioral situations were used to trigger sequences of...
Behav. Brain Res. - issue: 1 - volume: 201 - pages: 59-65.

Boissel, S.  et al. 2009

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations

FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first intron of the FTO gene have been...
Am. J. Hum. Genet. - issue: 1 - volume: 85 - pages: 106-111.

Horard, B.  et al. 2009

Global analysis of DNA methylation and transcription of human repetitive sequences

Half of the human genome consists of repetitive DNA sequences. Recent studies in various organisms highlight the role of chromatin regulation of repetitive DNA in gene regulation as well as in...
Epigenetics - issue: 5 - volume: 4 - pages: 339-350.

Chassaing, N.  et al. 2009

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic...
Hum. Mutat. - issue: 5 - volume: 30 - pages: E673-681.

de Pontual, L.  et al. 2009

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and show that...
Hum. Mutat. - issue: 4 - volume: 30 - pages: 669-676.

Benko, S.  et al. 2009

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Pierre Robin sequence (PRS) is an important subgroup of cleft palate. We report several lines of evidence for the existence of a 17q24 locus underlying PRS, including linkage analysis results, a...
Nat. Genet. - issue: 3 - volume: 41 - pages: 359-364.

Bajolle, F.  et al. 2009

Conotruncal defects associated with anomalous pulmonary venous connections

BACKGROUND: Conotruncal defects constitute one of the major categories of congenital heart disease. Our understanding of how these defects develop has been derived from knowledge of the role of neural...
Arch Cardiovasc Dis - issue: 2 - volume: 102 - pages: 105-110.

Bruyneel, A.  et al. 2009

Dynamical asymmetries in idiopathic scoliosis during forward and lateral initiation step

Adolescent idiopathic scoliosis (AIS) is characterized by morphological trunk modifications acting on body mass distribution. Some specific biomechanical strategies during postural regulation have...
Eur Spine J - issue: 2 - volume: 18 - pages: 188-195.

Laure, L.  et al. 2009

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling

In an attempt to identify potential therapeutic targets for the correction of muscle wasting, the gene expression of several pivotal proteins involved in protein metabolism was investigated in...
FEBS J. - issue: 3 - volume: 276 - pages: 669-684.

Laure, L.  et al. 2009

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling

In an attempt to identify potential therapeutic targets for the correction of muscle wasting, the gene expression of several pivotal proteins involved in protein metabolism was investigated in...
FEBS J. - issue: 3 - volume: 276 - pages: 669-684.

Ottaviani, A.  et al. 2009

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy (FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The consequence of this...
PLoS Genet. - issue: 2 - volume: 5 - pages: e1000394.

Cotti, J.  et al. 2009

Adaptation of reactive and voluntary saccades: different patterns of adaptation revealed in the antisaccade task

Sensorimotor adaptation restores and maintains the accuracy of goal-directed movements. It remains unclear whether these adaptive mechanisms modify actions by controlling peripheral premotor stages...
J. Physiol. (Lond.) - issue: 1 - volume: 587 - pages: 127-138.

Bajolle, F.  et al. 2009

Genetics and embryological mechanisms of congenital heart diseases

Developmental genetics of congenital heart diseases has evolved from analysis of embryo sections towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Lineage...
Arch Cardiovasc Dis - issue: 1 - volume: 102 - pages: 59-63.

Delfourne, E.  et al. 2008

Analogues of marine pyrroloiminoquinone alkaloids: synthesis and antitumor properties

Marine organisms provide a valuable source for natural products. In recent years, iminoquinone alkaloids including makaluvamines, isobatzellines, tsitsikammamines and wakayin, have emerged as an...
Anticancer Agents Med Chem - issue: 8 - volume: 8 - pages: 910-916.

Sajedi, E.  et al. 2008

Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism

A homozygous substitution of the highly conserved isoleucine at position 26 by threonine (I26T) in the transcriptional repressor HESX1 has been associated with anterior pituitary hypoplasia in a human...
Dis Model Mech - issue: 4-5 - volume: 1 - pages: 241-254.