[PDF] Top 20 Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
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Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
... degree of cataract or intraocular lens is present as early as 34 in 11/21 ...shows in most patients classical RPE changes in the periphery with intraretinal pigment migrations, sign ... Voir le document complet
18
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.: RP1mutations in French adRP patients
... assessment Patients with a provisional diagnosis of autosomal dominant rod-cone dystrophy, (adRP) were ascertained in the Clinical Investigating Centre of ... Voir le document complet
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Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
... defect in one eye for one patient (CIC00607) and both eyes for patients CIC00140 and CIC03777 who also had low visual ...only in one patient (CIC00034), age ...signs of RP with variable ... Voir le document complet
10
Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa.
... ABSTRACT In retinitis pigmentosa (RP), a majority of causative mutations affect genes solely expressed in rods; however cone degeneration inevitably follows rod cell ...and ... Voir le document complet
41
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
... Characterization of the RPGR-RP Cohort We identified RPGR causative variants in 48 male patients (from 31 unrelated families) diagnosed with ...third of the patients were part of ... Voir le document complet
15
Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions
... result of transplantations in a genetic model of the disease led to the concept of cell interactions between rods and cones and of non-cell autonomous degeneration of cones ... Voir le document complet
17
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
... Division of Cardiovascular Genetics, University of Utah, Salt Lake City, UT ...Departments of Vascular Medicine ...Department of Endocrinology, Metabolic Diseases and Nutrition, l’Institut du ... Voir le document complet
27
[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy.]
... L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignemen[r] ... Voir le document complet
2
Rod-derived cone viability factor : un espoir de thérapie des dégénérescences rétiniennes ?
... RdCVF présente une homologie avec la famille des thiorédoxines. Le polypeptide isolé est un variant d’épissage d’un nou- veau gène (Txnl6), tronquée dans le motif thiorédoxine et ne possédant pas l’activité ... Voir le document complet
3
Effect of point mutations on the ultrafast photo-isomerization of Anabaena sensory rhodopsin
... solubilized in buffer (150 mM NaCl, 50 mM Tris-HCL, ...spectra of dark-adapted (DA) and light-adapted (LA) protein samples were obtained using a Perkin Elmer “Lambda 950” UV/VIS spectrometer equipped with ... Voir le document complet
12
Novel CAPN3 variant associated with an autosomal dominant calpainopathy
... reported in the lit-erature [9]. It is likely that some of these late-onset mild clinical phenotypes could easily have been confused with sup-posedly natural muscular senescence or even missed because ... Voir le document complet
16
Mutations in dynamin 2 cause dominant Centronuclear Myopathy
... identification of the CNM locus, three large autosomal dominant CNM families were selected: Families 1 and 3 with classical AD CNM form and Family 2 with a milder phenotype associated with diffuse ... Voir le document complet
20
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease
... Background In the vast majority of the Alzheimer’s disease (AD) cases, the disease is considered as a complex disorder with a high genetic component as part of a multifactorial deter- minism (for ... Voir le document complet
9
Clinicians' attitude towards family planning and timing of diagnosis in autosomal dominant polycystic kidney disease.
... aspects in the management of Autosomal Dominant Polycystic Kidney Dis- ease (ADPKD) are still controversial, including family planning and testing for disease pres- ence in at-risk ... Voir le document complet
14
The thioredoxin encoded by the Rod-derived Cone Viability Factor gene protects cone photoreceptors against oxidative stress
... 1 of the Nxnl1 gene, and the Cone-Cre mice with Cre recombinase directed by the human red/green pigment (HRGP) gene were kindly provided by Yun Zheng Le (24) .... Cone-Cre mice were crossed with ... Voir le document complet
50
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
... the patients and their families for their ...Fellow in Medicine (M77/13) and is supported by the Swedish Research Council (AW ...recipient of the Royal Society Wolfson Research Merit ...Foundation ... Voir le document complet
15
Thioredoxin rod-derived cone viability factor protects against photooxidative retinal damage
... apoptosis in the Nxnl1-/- mice after light ...methods: in situ, using TUNEL assay and a quantitative ELISA assay, based on the detection of free nucleosomes in retinal extracts 32 ...increase ... Voir le document complet
31
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
... dissemination of sci- entific research documents, whether they are pub- lished or ...institutions in France or abroad, or from public or private research ... Voir le document complet
10
Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
... description of epileptic syndromes is needed for improved management of affected ...presentations of EOEE. The pedigrees (families 1 and 2, shown in Figure 1 ) were highly suggestive of ... Voir le document complet
8
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
... screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ...causes of autosomal recessive cerebellar ataxia (ARCA) include ... Voir le document complet
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