Lista de obras - Teresa Esposito - Dominio Público Uruguay

A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis

scientific article published on 14 March 2012

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease

artículo científico publicado en 2012

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease

artículo científico publicado en 2014

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

scientific article published on 12 November 2015

A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation

artículo científico publicado en 1996

ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses

artículo científico publicado en 2008

Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.

artículo científico publicado en 2013

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

artículo científico publicado en 2018

Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.

artículo científico

Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

artículo científico publicado en 2013

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.

artículo científico publicado en 2010

Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort

artículo científico publicado en 2012

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

article

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

artículo científico publicado en 2013

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

artículo científico publicado en 2013

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

scientific article published on 27 December 2018

Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage

artículo científico publicado en 2004

Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E

artículo científico publicado en 1997

Estrogen receptor polymorphism, estrogen content and idiopathic scoliosis in human: a possible genetic linkage.

artículo científico publicado en 2009

Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers

artículo científico publicado en 2016

Expressed STSs and transcription of human Xq28

artículo científico publicado en 1997

FMO3 allelic variants in Sicilian and Sardinian populations: Trimethylaminuria and absence of fish-like body odor ⬇️

artículo científico publicado el 21 de diciembre de 2012

FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women

artículo científico publicado en 2010

Filamin (FLN1),plexin (SEX), major palmitoylated proteinp55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

artículo científico publicado en 2000

Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report

artículo científico publicado en 2014

Genes, diet and uric acid nephrolithiasis

article

Genetic variants of Y chromosome are associated with a protective lipid profile in black men.

artículo científico publicado en 2008

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

artículo científico publicado en 2000

Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree

artículo científico publicado en 2013

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

artículo científico publicado en 2007

Hormonal regulation and characterization of MHG30 gene, a desaturase-like gene of hamster harderian gland

artículo científico publicado en 2015

Human homologue of the murinebare patches/striated gene is not mutated in incontinentia pigmenti type 2

article

Human protein kinase C Iota gene (PRKCI) is closely linked to the BTK gene in Xq21.3

artículo científico publicado en 1995

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate

artículo científico publicado en 2003

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

artículo científico publicado en 2017

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

artículo científico publicado en 2013

Impairment of spermatogenesis and enhancement of testicular germ cell apoptosis induced by exogenous all-trans-retinoic acid in adult lizard Podarcis sicula.

artículo científico publicado en 2006

Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

artículo científico publicado en 2008

Lxrα regulates the androgen response in prostate epithelium

artículo científico publicado en 2012

Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome.

artículo científico publicado en 1997

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti

scientific article published on 01 April 2000

Novel autophagic vacuolar myopathies: phenotype and genotype features

artículo científico publicado en 2021

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

artículo científico publicado en 2014

Regulation of androgen receptor mRNA expression in primary culture of Harderian gland cells: cross-talk between steroid hormones.

artículo científico publicado en 2002

Regulation of flavin-containing mono-oxygenase (Fmo3) gene expression by steroids in mice and humans.

artículo científico publicado en 2014

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

artículo científico publicado en 2010

Sequence analysis and androgen regulation of MHG07 (Male harderian gland) mRNA in male hamster harderian gland

artículo científico publicado en 2000

Sequence analysis of retinoic acid receptor alpha, beta and gamma isoforms in the lizard, Podarcis sicula

scientific article published on 14 March 2007

Sequence-tagged sites (STSs) from YAC insert-ends and X-specific flow-sorted chromosomes.

artículo científico publicado en 1994

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

artículo científico publicado en 2001

The expression of androgen receptor messenger RNA is regulated by tri-iodothyronine in lizard testis

artículo científico publicado en 2000

The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.

artículo científico publicado en 2011

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

artículo científico publicado en 2013

Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

artículo científico publicado en 2017

Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.

artículo científico publicado en 2008

X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes

scientific article published on 01 August 2001

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

artículo científico publicado en 2016

ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone

artículo científico publicado en 2018

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

artículo científico publicado en 2008

piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.

artículo científico publicado en 2011

Lista de obras de Teresa Esposito

A functional allelic variant of the FGF23 gene is associated with renal phosphate leak in calcium nephrolithiasis

A nonsynonymous TNFRSF11A variation increases NFκB activity and the severity of Paget's disease

A novel GBE1 mutation and features of polyglucosan bodies autophagy in adult polyglucosan body disease

A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1

A synaptobrevin-like gene in the Xq28 pseudoautosomal region undergoes X inactivation

ATP1A2 gene mutations are not present in two sisters with basilar-type migraine associated with menses

Association of a GRIA3 gene polymorphism with migraine in an Australian case-control cohort.

Autosomal dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation

Clinical characteristics and evolution of giant cell tumor occurring in Paget's disease of bone.

Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

Common variants in the regulative regions of GRIA1 and GRIA3 receptor genes are associated with migraine susceptibility.

Confirmation that Xq27 and Xq28 are susceptibility loci for migraine in independent pedigrees and a case-control cohort

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage

Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E

Estrogen receptor polymorphism, estrogen content and idiopathic scoliosis in human: a possible genetic linkage.

Evidence for epistatic interaction between VDR and SLC13A2 genes in the pathogenesis of hypocitraturia in recurrent calcium oxalate stone formers

Expressed STSs and transcription of human Xq28

FMO3 allelic variants in Sicilian and Sardinian populations: Trimethylaminuria and absence of fish-like body odor ⬇️

FSHR gene polymorphisms influence bone mineral density and bone turnover in postmenopausal women

Filamin (FLN1),plexin (SEX), major palmitoylated proteinp55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2

Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report

Genes, diet and uric acid nephrolithiasis

Genetic variants of Y chromosome are associated with a protective lipid profile in black men.

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Hormonal regulation and characterization of MHG30 gene, a desaturase-like gene of hamster harderian gland

Human homologue of the murinebare patches/striated gene is not mutated in incontinentia pigmenti type 2

Human protein kinase C Iota gene (PRKCI) is closely linked to the BTK gene in Xq21.3

Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate

Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

Imerslund-Gräsbeck syndrome in a 25-month-old Italian girl caused by a homozygous mutation in AMN

Impairment of spermatogenesis and enhancement of testicular germ cell apoptosis induced by exogenous all-trans-retinoic acid in adult lizard Podarcis sicula.

Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility

Lxrα regulates the androgen response in prostate epithelium

Mapping of 59 EST gene markers in 31 intervals spanning the human X chromosome.

Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti

Novel autophagic vacuolar myopathies: phenotype and genotype features

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

Regulation of androgen receptor mRNA expression in primary culture of Harderian gland cells: cross-talk between steroid hormones.

Regulation of flavin-containing mono-oxygenase (Fmo3) gene expression by steroids in mice and humans.

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

Sequence analysis and androgen regulation of MHG07 (Male harderian gland) mRNA in male hamster harderian gland

Sequence analysis of retinoic acid receptor alpha, beta and gamma isoforms in the lizard, Podarcis sicula

Sequence-tagged sites (STSs) from YAC insert-ends and X-specific flow-sorted chromosomes.

Survival of male patients with incontinentia pigmenti carrying a lethal mutation can be explained by somatic mosaicism or Klinefelter syndrome

The expression of androgen receptor messenger RNA is regulated by tri-iodothyronine in lizard testis

The melatonin receptor 1A (MTNR1A) gene is associated with recurrent and idiopathic calcium nephrolithiasis.

Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.

Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy.

Vitamin D receptor gene polymorphisms predict acquired resistance to clodronate treatment in patients with Paget's disease of bone.

X/autosomal translocations in the Xq critical region associated with premature ovarian failure fall within and outside genes

ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.

ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

piR_015520 belongs to Piwi-associated RNAs regulates expression of the human melatonin receptor 1A gene.