Lista de obras - Christine Bôle-Feysot - Dominio Público Uruguay

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

artículo científico publicado en 2017

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

artículo científico publicado en 2014

A human immunodeficiency caused by mutations in the PIK3R1 gene

artículo científico publicado en 2014

A human immunodeficiency caused by mutations in the PIK3R1 gene

article

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

artículo científico

A rare castration-resistant progenitor cell population is highly enriched in Pten-null prostate tumours

artículo científico publicado en 2017

A role for intestinal TLR4-driven inflammatory response during activity-based anorexia

artículo científico publicado en 2016

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

artículo científico publicado en 2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

artículo científico publicado en 2013

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

artículo científico publicado en 2017

Abnormal Wnt and PI3Kinase signaling in the malformed intestine of lama5 deficient mice

artículo científico publicado en 2012

Adjunct therapy of n-3 fatty acids to 5-ASA ameliorates inflammatory score and decreases NF-κB in rats with TNBS-induced colitis

artículo científico publicado en 2012

Anti-neuropeptide Y plasma immunoglobulins in relation to mood and appetite in depressive disorder

artículo científico publicado en 2012

B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells

artículo científico publicado en 2012

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

artículo científico publicado en 2012

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

artículo científico publicado en 2011

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

artículo científico publicado en 2009

Combined enteral infusion of glutamine, carbohydrates, and antioxidants modulates gut protein metabolism in humans

artículo científico publicado en 2008

Complete genome sequence of mumps virus genotype g from a vaccinated child in franceville, southeastern Gabon, in 2013.

artículo científico publicado en 2014

Contiguous mutation syndrome in the era of high-throughput sequencing

artículo científico publicado en 2015

Contribution of PKC-dependent and -independent processes in temporal ERK regulation by ET-1, PDGF, and EGF in rat myometrial cells

artículo científico publicado en 2003

Contribution of phospholipase D in endothelin-1-mediated extracellular signal-regulated kinase activation and proliferation in rat uterine leiomyoma cells

artículo científico publicado en 2004

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

scientific journal article

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

artículo científico publicado en 2017

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

artículo científico publicado en 2013

Effects of rabbit anti-α-melanocyte-stimulating hormone (α-MSH) immunoglobulins on α-MSH signaling related to food intake control.

artículo científico publicado en 2013

Endothelin-1 inhibits apoptosis through a sphingosine kinase 1-dependent mechanism in uterine leiomyoma ELT3 cells

scientific journal article

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

artículo científico publicado en 2013

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

artículo científico publicado en 2012

Glutamine Restores Tight Junction Protein Claudin-1 Expression in Colonic Mucosa of Patients With Diarrhea-Predominant Irritable Bowel Syndrome

artículo científico publicado en 2015

Glutamine and interleukin-1beta interact at the level of Sp1 and nuclear factor-kappaB to regulate argininosuccinate synthetase gene expression

artículo científico publicado en 2007

Glutamine induces nuclear degradation of the NF-κB p65 subunit in Caco-2/TC7 cells

artículo científico publicado en 2011

Glutamine supplementation, but not combined glutamine and arginine supplementation, improves gut barrier function during chemotherapy-induced intestinal mucositis in rats

artículo científico publicado en 2013

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

artículo científico publicado en 2010

Hyperhomocysteinemia-induced oxidative stress differentially alters proteasome composition and activities in heart and aorta

artículo científico publicado en 2014

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

artículo científico publicado en 2014

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

artículo científico publicado en 2012

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

artículo científico publicado en 2014

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

artículo científico publicado en 2014

Increased Ghrelin but Low Ghrelin-Reactive Immunoglobulins in a Rat Model of Methotrexate Chemotherapy-Induced Anorexia

artículo científico publicado en 2016

Increased immune complexes of hypocretin autoantibodies in narcolepsy

artículo científico publicado en 2010

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

artículo científico publicado en 2011

Magnetic resonance colonography for fibrosis assessment in rats with chronic colitis

artículo científico publicado en 2014

Maintaining physical activity during refeeding improves body composition, intestinal hyperpermeability and behavior in anorectic mice

artículo científico publicado en 2016

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

artículo científico publicado en 2012

Methotrexate induces intestinal mucositis and alters gut protein metabolism independently of reduced food intake

artículo científico publicado en 2008

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

artículo científico publicado en 2015

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

scientific journal article

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

artículo científico publicado en 2015

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

artículo científico publicado en 2016

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

artículo científico publicado en 2013

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

artículo científico publicado en 2013

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

artículo científico publicado en 2017

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

artículo científico publicado en 2011

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

artículo científico publicado en 2015

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

artículo científico publicado en 2010

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

artículo científico publicado en 2012

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

artículo científico publicado en 2016

Recurrent KIF2A mutations are responsible for classic lissencephaly

artículo científico publicado en 2016

Refining the phenotype associated with CASC5 mutation

artículo científico publicado en 2015

Regulation of feeding and anxiety by alpha-MSH reactive autoantibodies

artículo científico publicado en 2008

Regulation of proteolysis by cytokines in the human intestinal epithelial cell line HCT-8: role of IFNgamma

artículo científico publicado en 2006

Resequencing microarray technology for genotyping human papillomavirus in cervical smears

artículo científico publicado en 2014

Self-assembled small-molecule microarrays for protease screening and profiling

artículo científico publicado en 2006

Sex-related effects of nutritional supplementation of Escherichia coli: relevance to eating disorders

artículo científico publicado en 2014

TAF9b (formerly TAF9L) is a bona fide TAF that has unique and overlapping roles with TAF9

artículo científico publicado en 2005

TCTN3 mutations cause Mohr-Majewski syndrome

artículo científico publicado en 2012

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

artículo científico publicado en 2014

The TFIID subunit TAF4 regulates keratinocyte proliferation and has cell-autonomous and non-cell-autonomous tumour suppressor activity in mouse epidermis

artículo científico publicado en 2007

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

artículo científico publicado en 2016

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

Lista de obras de Christine Bôle-Feysot

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

A human immunodeficiency caused by mutations in the PIK3R1 gene

A human immunodeficiency caused by mutations in the PIK3R1 gene

A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia

A rare castration-resistant progenitor cell population is highly enriched in Pten-null prostate tumours

A role for intestinal TLR4-driven inflammatory response during activity-based anorexia

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Abnormal Wnt and PI3Kinase signaling in the malformed intestine of lama5 deficient mice

Adjunct therapy of n-3 fatty acids to 5-ASA ameliorates inflammatory score and decreases NF-κB in rats with TNBS-induced colitis

Anti-neuropeptide Y plasma immunoglobulins in relation to mood and appetite in depressive disorder

B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

Combined enteral infusion of glutamine, carbohydrates, and antioxidants modulates gut protein metabolism in humans

Complete genome sequence of mumps virus genotype g from a vaccinated child in franceville, southeastern Gabon, in 2013.

Contiguous mutation syndrome in the era of high-throughput sequencing

Contribution of PKC-dependent and -independent processes in temporal ERK regulation by ET-1, PDGF, and EGF in rat myometrial cells

Contribution of phospholipase D in endothelin-1-mediated extracellular signal-regulated kinase activation and proliferation in rat uterine leiomyoma cells

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Effects of rabbit anti-α-melanocyte-stimulating hormone (α-MSH) immunoglobulins on α-MSH signaling related to food intake control.

Endothelin-1 inhibits apoptosis through a sphingosine kinase 1-dependent mechanism in uterine leiomyoma ELT3 cells

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

Glutamine Restores Tight Junction Protein Claudin-1 Expression in Colonic Mucosa of Patients With Diarrhea-Predominant Irritable Bowel Syndrome

Glutamine and interleukin-1beta interact at the level of Sp1 and nuclear factor-kappaB to regulate argininosuccinate synthetase gene expression

Glutamine induces nuclear degradation of the NF-κB p65 subunit in Caco-2/TC7 cells

Glutamine supplementation, but not combined glutamine and arginine supplementation, improves gut barrier function during chemotherapy-induced intestinal mucositis in rats

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

Hyperhomocysteinemia-induced oxidative stress differentially alters proteasome composition and activities in heart and aorta

Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

Increased Ghrelin but Low Ghrelin-Reactive Immunoglobulins in a Rat Model of Methotrexate Chemotherapy-Induced Anorexia

Increased immune complexes of hypocretin autoantibodies in narcolepsy

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Magnetic resonance colonography for fibrosis assessment in rats with chronic colitis

Maintaining physical activity during refeeding improves body composition, intestinal hyperpermeability and behavior in anorectic mice

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Methotrexate induces intestinal mucositis and alters gut protein metabolism independently of reduced food intake

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies ⬇️

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Recurrent KIF2A mutations are responsible for classic lissencephaly

Refining the phenotype associated with CASC5 mutation

Regulation of feeding and anxiety by alpha-MSH reactive autoantibodies

Regulation of proteolysis by cytokines in the human intestinal epithelial cell line HCT-8: role of IFNgamma

Resequencing microarray technology for genotyping human papillomavirus in cervical smears

Self-assembled small-molecule microarrays for protease screening and profiling

Sex-related effects of nutritional supplementation of Escherichia coli: relevance to eating disorders

TAF9b (formerly TAF9L) is a bona fide TAF that has unique and overlapping roles with TAF9

TCTN3 mutations cause Mohr-Majewski syndrome

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

The TFIID subunit TAF4 regulates keratinocyte proliferation and has cell-autonomous and non-cell-autonomous tumour suppressor activity in mouse epidermis

Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population

XYLT1 mutations in Desbuquois dysplasia type 2.