M. Arbonés

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

S. de la Luna, E. Martí, S. Porta, 2007, The European journal of neuroscience.

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

X. Estivill, N. López-Bigas, P. Gasparini, 2002, Human mutation.

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

Xavier Estivill, X. Estivill, K. Willecke, 2002, Human Genetics.

Neurobehavioral development of two mouse lines commonly used in transgenic studies

M. Gratacós, X. Estivill, M. Dierssen, 2002, Pharmacology Biochemistry and Behavior.

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

X. Estivill, M. Dierssen, M. Arbonés, 2004, Behavioral neuroscience.

DYRK 1 A ( dual-specificity tyrosine-( Y )-phosphorylation regulated kinase 1 A )

M. Arbonés, S. Luna, 2022 .

A SMAD1/5-YAP signalling module drives radial glia self-amplification and growth of the developing cerebral cortex

M. Arbonés, A. Zwijsen, A. Esteve-Codina, 2020, Development.

A SMAD1/5-YAP signaling module drives radial glial cell expansion and growth of the developing cerebral cortex

M. Arbonés, A. Zwijsen, A. Esteve-Codina, 2019, bioRxiv.

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

M. Vila, J. Delabar, A. Laguna, 2014, Cell Death and Disease.

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

X. Estivill, N. López-Bigas, R. Rabionet, 2006 .

Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome

J. Lucas, I. Erb, S. de la Luna, 2018, bioRxiv.

A SMAD 1 / 5-YAP signaling module drives radial glia self-1 amplification and growth of the developing cerebral cortex 2 3

M. Arbonés, A. Zwijsen, A. Esteve-Codina, 2020 .

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

X. Estivill, N. López-Bigas, P. Gasparini, 2002, Human mutation.

Gene targeting in normal somatic cells: inactivation of the interferon–γ receptor in myoblasts

M. Arbonés, D. Capon, H. A. Austin, 1994, Nature Genetics.

Sequential contribution of L- and P-selectin to leukocyte rolling in vivo

A. Beaudet, K. Ley, D. Bullard, 1995, The Journal of experimental medicine.

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

X. Estivill, F. Llorens, M. Valverde, 2007, Human molecular genetics.

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

Yong Yu, S. Porta, M. Arbonés, 2008, Human molecular genetics.

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

M. Palacín, J. Chillarón, A. Zorzano, 2003, Human molecular genetics.

Upregulation of RCAN1 causes Down syndrome-like immune dysfunction

M. Arbonés, M. Pritchard, R. Boyd, 2013, Journal of Medical Genetics.

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

J. Redondo, I. Lizasoain, E. Cano, 2012, Journal of Neuroinflammation.

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

X. Estivill, E. Soriano, M. Nadal, 2001, Mechanisms of Development.

Connexin mutations in hearing loss, dermatological and neurological disorders.

X. Estivill, N. López-Bigas, R. Rabionet, 2002, Trends in molecular medicine.

DSCR 1 / RCAN 1 regulates vesicle exocytosis and fusion pore kinetics : implications for Down syndrome and Alzheimer ’ s disease

Yong Yu, S. Porta, M. Arbonés, 2008 .

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

M. Arbonés, R. Roper, Maeve Tischbein, 2015, Mechanisms of Development.

Abnormal mineralization of the Ts 65 Dn Down syndrome mouse appendicular skeleton begins during embryonic development in a Dyrk 1 a-independent manner

M. Arbonés, R. Roper, Maeve Tischbein, 2015 .

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

X. Estivill, N. López-Bigas, P. Gasparini, 2001, Human mutation.

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

X. Estivill, N. López-Bigas, P. Gasparini, 2000 .

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

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Human Genetics.

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

X. Estivill, N. López-Bigas, M. Arbonés, 2002, Mechanisms of Development.

IFN-γR -/- mice show an enhanced liver and brain metallothionein I+II response to endotoxin but not to immobilization stress

M. Arbonés, Joaquı́n Hernández, J. Hidalgo, 1997 .

Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome

C. Soto-Sánchez, M. Arbonés, M. Barallobre, 2022, Scientific Reports.

One-carbon cycle alterations induced by Dyrk1a dosage

J. Delabar, N. Janel, C. Noll, 2014, Molecular genetics and metabolism reports.

Characteristics of nitric oxide synthase type I of rat cerebellar astrocytes

L. Agulló, Agustina Garcı́a, M. Arbonés, 1996, Glia.

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

M. Castelo‐Branco, J. Delabar, C. Mateus, 2013, Human molecular genetics.

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

J. Delabar, A. Laguna, S. de la Luna, 2008, Developmental cell.

DYRK1A and cognition: A lifelong relationship

M. Hagiwara, J. Delabar, M. Arbonés, 2019, Pharmacology & therapeutics.

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

R. Scharfmann, M. Polak, J. Delabar, 2014, Diabetologia.

Impaired Spatial Learning Strategies and Novel Object Recognition in Mice Haploinsufficient for the Dual Specificity Tyrosine-Regulated Kinase-1A (Dyrk1A)

M. Dierssen, M. Arbonés, M. M. de Lagrán, 2008, PloS one.

Dyrk1A Haploinsufficiency Affects Viability and Causes Developmental Delay and Abnormal Brain Morphology in Mice

X. Estivill, M. Dierssen, E. Soriano, 2002, Molecular and Cellular Biology.

Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome

J. Lucas, I. Erb, S. de la Luna, 2018, Neurobiology of Disease.

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

X. Estivill, E. Di Iorio, P. Gasparini, 2001, American journal of human genetics.

DYRK1A modulates c-MET in pancreatic ductal adenocarcinoma to drive tumour growth

S. de la Luna, M. Cuatrecasas, M. Arbonés, 2018, Gut.

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

I. Fariñas, A. Laguna, S. de la Luna, 2010, Cell stem cell.

Murine models for Down syndrome

X. Estivill, M. Dierssen, M. Arbonés, 2001, Physiology & Behavior.

Functional genomics of Down syndrome: a multidisciplinary approach.

X. Estivill, M. Dierssen, E. Martí, 2001, Journal of neural transmission. Supplementum.

Chapter 5.9 Modelling Down syndrome in mice

M. Dierssen, M. Arbonés, M. Pritchard, 1999 .

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

D. Finkelstein, H. Coleman, H. Parkington, 2012, Human molecular genetics.

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

K. Ley, T. Tedder, M. Arbonés, 1994, Immunity.

DYRK1A Kinase Positively Regulates Angiogenic Responses in Endothelial Cells.

S. de la Luna, M. Valverde, M. Graupera, 2018, Cell reports.

DYRK1A: A master regulatory protein controlling brain growth

Y. Hérault, C. Verney, J. Delabar, 2012, Neurobiology of Disease.

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

X. Estivill, N. López-Bigas, P. Gasparini, 2001, Human molecular genetics.

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

S. Cook, D. Oxley, J. Delabar, 2015, EBioMedicine.

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

G. Condorelli, M. Gladka, L. Windt, 2010, Nature Cell Biology.

The protein kinase Dyrk1A regulates cell number during the development of the central nervous system

A. Laguna, M. Arbonés, M. Barallobre, 2008, International Journal of Developmental Neuroscience.

DYRK 1 A Kinase Positively Regulates Angiogenic Responses in Endothelial Cells Graphical

M. Valverde, M. Graupera, M. Arbonés, 2022 .

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

Y. Yanagawa, Y. Hérault, M. Dierssen, 2014, Neurobiology of Disease.

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

M. Dierssen, M. M. Lagrán, M. Arbonés, 2009, Neurobiology of Disease.

Green Tea Polyphenols Rescue of Brain Defects Induced by Overexpression of DYRK1A

Desmond J. Smith, J. Bizot, J. Delabar, 2009, PloS one.

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Nature Genetics.

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

X. Estivill, E. Soriano, J. Fuentes, 1999, European Journal of Human Genetics.

Regulator of calcineurin 1 mediates pathological vascular wall remodeling

J. Redondo, M. Roqué, M. Arbonés, 2011, The Journal of experimental medicine.

Explorer Dyrk 1 A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice

X. Estivill, M. Dierssen, E. Soriano, 2017 .

LPS-Induced Inflammation Abolishes the Effect of DYRK1A on IkB Stability in the Brain of Mice

J. Rain, J. Delabar, N. Janel, 2018, Molecular Neurobiology.

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

Stylianos E. Antonarakis, Xavier Estivill, Torsten Schwede, 2002, Journal of Molecular Medicine.

Gene expression analysis of the embryonic subplate.

Z. Molnár, A. Goffinet, M. Arbonés, 2012, Cerebral cortex.

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

J. Redondo, E. Cano, T. Minami, 2012, Journal of Neuroinflammation.

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

G. Rebillard, J. Puel, E. Ballana, 2007, Gene therapy.

Coxsackie adenovirus receptor and ανβ3/ανβ5 integrins in adenovirus gene transfer of rat cochlea

G. Rebillard, J. Puel, E. Ballana, 2007, Gene Therapy.

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.

X. Estivill, N. López-Bigas, R. Rabionet, 2000, American journal of human genetics.

R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

X. Estivill, N. López-Bigas, R. Rabionet, 2001, European Journal of Human Genetics.

Overexpression of Dyrk1A Is Implicated in Several Cognitive, Electrophysiological and Neuromorphological Alterations Found in a Mouse Model of Down Syndrome

R. Vidal, C. Martínez-Cué, M. Arbonés, 2014, PloS one.

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

G. Elston, J. DeFelipe, R. Benavides-Piccione, 2005, Neurobiology of Disease.

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

X. Estivill, Jing Wang, J. Puel, 2008, Neuroscience Letters.

Supplemental Data The Protein Kinase DYRK 1 A Regulates Caspase-9-Mediated Apoptosis during Retina Development

J. Delabar, A. Laguna, M. Arbonés, 2008 .

Automated Macro Approach to Quantify Synapse Density in 2D Confocal Images from Fixed Immunolabeled Neural Tissue Sections.

Elena Rebollo, Jaume Boix-Fabrés, Maria L Arbones, 2019, Methods in molecular biology.

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

M. Arbonés, D. Capon, H. A. Austin, 1994, Nature Genetics.

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

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Human mutation.

Combined assessment of DYRK1A, BDNF and homocysteine levels as diagnostic marker for Alzheimer’s disease

B. Dubois, M. Sarazin, F. Lamari, 2017, Translational psychiatry.

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

X. Estivill, N. López-Bigas, M. Arbonés, 2002, Gene expression patterns : GEP.