List of works - María Lourdes Arbonés

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

scientific article

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

article

Abnormal mineralization of the Ts65Dn Down syndrome mouse appendicular skeleton begins during embryonic development in a Dyrk1a-independent manner

scientific article published on 30 December 2014

Age-associated motor and visuo-spatial learning phenotype in Dyrk1A heterozygous mutant mice.

scientific article published on 4 August 2009

Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse

scientific article published in October 2005

Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome

scientific article

Characteristics of nitric oxide synthase type I of rat cerebellar astrocytes

scientific article

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

scientific article (publication date: 15 April 2001)

Connexin mutations in hearing loss, dermatological and neurological disorders.

scientific article

Coxsackie adenovirus receptor and alpha nu beta3/alpha nu beta5 integrins in adenovirus gene transfer of rat cochlea.

scientific article published on 3 August 2006

DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease

scientific article published on 7 January 2008

DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson's disease

scientific article published on 12 June 2014

DYRK1A-mediated Cyclin D1 Degradation in Neural Stem Cells Contributes to the Neurogenic Cortical Defects in Down Syndrome

scientific article

DYRK1A: a master regulatory protein controlling brain growth.

scientific article published on 26 January 2012

Differential expression of members of the RCAN family of calcineurin regulators suggests selective functions for these proteins in the brain

scientific article published on 01 September 2007

Dopaminergic deficiency in mice with reduced levels of the dual-specificity tyrosine-phosphorylated and regulated kinase 1A, Dyrk1A(+/-).

scientific article published on 28 November 2006

Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.

scientific article

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

scientific article

Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell mass

scientific article published on 30 January 2014

Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.

scientific article published on 26 June 2008

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

scientific article published in July 2002

Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

scientific article published on 4 May 2014

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

scientific article published on November 2002

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

scientific article published on December 2002

Gene expression analysis of the embryonic subplate

scientific article published on 22 August 2011

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin

scientific article published on 22 March 2003

Gene targeting in normal somatic cells: inactivation of the interferon-gamma receptor in myoblasts

scientific article published in January 1994

Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A.

scientific article

Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity.

scientific article published in August 2004

Histamine H1-receptors mediate phosphoinositide hydrolysis in astrocyte-enriched primary cultures

scientific article

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

scientific article published on 22 June 2002

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

scientific article published in December 2001

Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).

scientific article

Lymphocyte homing and leukocyte rolling and migration are impaired in L-selectin-deficient mice

scientific article published in July 1994

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

scientific article published in September 2001

MicroRNA-199b targets the nuclear kinase Dyrk1a in an auto-amplification loop promoting calcineurin/NFAT signalling.

scientific article

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

scientific article published in January 2000

Murine models for Down syndrome

scientific article

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

scientific article (publication date: February 2002)

Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

scientific article published on April 2000

Neurobehavioral development of two mouse lines commonly used in transgenic studies

scientific article published in August 2002

One-carbon cycle alterations induced by Dyrk1a dosage

scientific article published on 21 November 2014

Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory.

scientific article

Overexpression of Dyrk1A is implicated in several cognitive, electrophysiological and neuromorphological alterations found in a mouse model of Down syndrome

scientific article

Phosphoinositide hydrolysis mediated by histamine H1-receptors in rat brain cortex

scientific article published in April 1986

Plasma DYRK1A as a novel risk factor for Alzheimer's disease.

scientific article

Presence and distribution of histaminergic components in rat and bovine retina

scientific article published in January 1988

RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.

scientific article

Regulated segregation of kinase Dyrk1A during asymmetric neural stem cell division is critical for EGFR-mediated biased signaling.

scientific article published in September 2010

Regulator of calcineurin 1 (Rcan1) has a protective role in brain ischemia/reperfusion injury

scientific article published on 7 March 2012

Regulator of calcineurin 1 mediates pathological vascular wall remodeling

scientific article published on 19 September 2011

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

scientific article published on 15 July 2003

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

scientific article published in January 1999

The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development

scientific article published in December 2008

Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome

scientific article published on 19 March 2013

Upregulation of RCAN1 causes Down syndrome-like immune dysfunction.

scientific article

[3H]mepyramine binding to histamine H1 receptors in bovine retina

scientific article published in March 1986

List of works by María Lourdes Arbonés

A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families

A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Abnormal mineralization of the Ts65Dn Down syndrome mouse appendicular skeleton begins during embryonic development in a Dyrk1a-independent manner

Age-associated motor and visuo-spatial learning phenotype in Dyrk1A heterozygous mutant mice.

Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse

Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome

Characteristics of nitric oxide synthase type I of rat cerebellar astrocytes

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

Connexin mutations in hearing loss, dermatological and neurological disorders.

Coxsackie adenovirus receptor and alpha nu beta3/alpha nu beta5 integrins in adenovirus gene transfer of rat cochlea.

DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease

DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson's disease

DYRK1A-mediated Cyclin D1 Degradation in Neural Stem Cells Contributes to the Neurogenic Cortical Defects in Down Syndrome

DYRK1A: a master regulatory protein controlling brain growth.

Differential expression of members of the RCAN family of calcineurin regulators suggests selective functions for these proteins in the brain

Dopaminergic deficiency in mice with reduced levels of the dual-specificity tyrosine-phosphorylated and regulated kinase 1A, Dyrk1A(+/-).

Dscr1, a novel endogenous inhibitor of calcineurin signaling, is expressed in the primitive ventricle of the heart and during neurogenesis.

Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell mass

Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

Expression profiles of the connexin genes, Gjb1 and Gjb3, in the developing mouse cochlea

Gene expression analysis of the embryonic subplate

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin

Gene targeting in normal somatic cells: inactivation of the interferon-gamma receptor in myoblasts

Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A.

Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity.

Histamine H1-receptors mediate phosphoinositide hydrolysis in astrocyte-enriched primary cultures

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).

Lymphocyte homing and leukocyte rolling and migration are impaired in L-selectin-deficient mice

MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss

MicroRNA-199b targets the nuclear kinase Dyrk1a in an auto-amplification loop promoting calcineurin/NFAT signalling.

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

Murine models for Down syndrome

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation

Neurobehavioral development of two mouse lines commonly used in transgenic studies

One-carbon cycle alterations induced by Dyrk1a dosage

Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory.

Overexpression of Dyrk1A is implicated in several cognitive, electrophysiological and neuromorphological alterations found in a mouse model of Down syndrome

Phosphoinositide hydrolysis mediated by histamine H1-receptors in rat brain cortex

Plasma DYRK1A as a novel risk factor for Alzheimer's disease.

Presence and distribution of histaminergic components in rat and bovine retina

RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress: a potential pathogenic process in neurodegeneration.

Regulated segregation of kinase Dyrk1A during asymmetric neural stem cell division is critical for EGFR-mediated biased signaling.

Regulator of calcineurin 1 (Rcan1) has a protective role in brain ischemia/reperfusion injury

Regulator of calcineurin 1 mediates pathological vascular wall remodeling

Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development

Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome

Upregulation of RCAN1 causes Down syndrome-like immune dysfunction.

[3H]mepyramine binding to histamine H1 receptors in bovine retina