Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

Oxidative Stress and Apoptosis in Benzo[a]pyrene-Induced Neural Tube Defects

(2018) Shanshan Lin et al.   FREE RADICAL BIOLOGY AND MEDICINE

PINX1 and TERT Are Required for TNF-α–Induced Airway Smooth Muscle Chemokine Gene Expression

(2018) Karl Deacon et al.   JOURNAL OF IMMUNOLOGY

Decreased mTOR signalling reduces mitochondrial ROS in brain via accumulation of the telomerase protein TERT within mitochondria

(2016) Satomi Miwa et al.   Aging-US

The role of genes involved in stress, neural plasticity, and brain circuitry in depressive phenotypes: Convergent findings in a mouse model of neglect

(2016) Janitza L. Montalvo-Ortiz et al.   BEHAVIOURAL BRAIN RESEARCH

The mediator complex subunit Med10 regulates heart valve formation in zebrafish by controlling Tbx2b-mediated Has2 expression and cardiac jelly formation

(2016) Steffen Just et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The associations of TERT-CLPTM1L variants and TERT mRNA expression with the prognosis of early stage non-small cell lung cancer

(2016) Z Chen et al.   CANCER GENE THERAPY

Wnt/β-Catenin Signaling Exacerbates Keloid Cell Proliferation by Regulating Telomerase

(2016) Dongmei Yu et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Membrane transporters as mediators of synaptic dopamine dynamics: implications for disease

(2016) Kelly M. Lohr et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases

(2016) Qun Lu et al.   HUMAN GENETICS

Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

(2016) Layla Damasceno Espirito Santo et al.   Biomed Research International

An association between a dopamine transporter gene (SLC6A3) haplotype and ADHD symptom measures in nonclinical adults

(2015) Janette H.S. Tong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

5p deletions: Current knowledge and future directions

(2015) Joanne M. Nguyen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

CTNND2 deletion and intellectual disability

(2015) Chiara Belcaro et al.   GENE

Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances

(2015) Luiza Emy Dorfman et al.   Jornal de Pediatria

δ-Catenin Regulates Spine Architecture via Cadherin and PDZ-dependent Interactions

(2015) Li Yuan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations

(2015) Haiqin Cheng et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I

(2015) Katarzyna Kmita et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects

(2015) Karen Regina de Souza et al.   Biomed Research International

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

(2015) Andrew Kodani et al.   eLife

Evaluation of genetic association of neurodevelopment and neuroimmunological genes with antipsychotic treatment response in schizophrenia in Indian populations

(2015) Ajay Jajodia et al.   Molecular Genetics & Genomic Medicine

Identification of possible downstream genes required for the extension of peripheral axons in primary sensory neurons

(2014) Makoto Aoki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Dual life of TPPP/p25 evolved in physiological and pathological conditions

(2014) Judit Oláh et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

A three-generation family with terminal microdeletion involving 5p15.33–32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome

(2014) Amira Elmakky et al.   European Journal of Medical Genetics

The clinical significance of small copy number variants in neurodevelopmental disorders

(2014) Reza Asadollahi et al.   JOURNAL OF MEDICAL GENETICS

CTNND2—a candidate gene for reading problems and mild intellectual disability

(2014) Wolfgang Hofmeister et al.   JOURNAL OF MEDICAL GENETICS

Non-raft adenylyl cyclase 2 defines a cAMP signaling compartment that selectively regulates IL-6 expression in airway smooth muscle cells: differential regulation of gene expression by AC isoforms

(2013) Amy S. Bogard et al.   NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY

CHRNA3/5,IREB2, andADCY2Are Associated with Severe Chronic Obstructive Pulmonary Disease in Poland

(2012) Megan Hardin et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

The Roles of Dopamine and Noradrenaline in the Pathophysiology and Treatment of Attention-Deficit/Hyperactivity Disorder

(2011) Natalia del Campo et al.   BIOLOGICAL PSYCHIATRY

Dopamine transporter genotype predicts behavioural and neural measures of response inhibition

(2011) T D R Cummins et al.   MOLECULAR PSYCHIATRY

Disruption of the Chaperonin Containing TCP-1 Function Affects Protein Networks Essential for Rod Outer Segment Morphogenesis and Survival

(2010) Ekaterina Posokhova et al.   MOLECULAR & CELLULAR PROTEOMICS

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

Animal models of depression in dopamine, serotonin, and norepinephrine transporter knockout mice: prominent effects of dopamine transporter deletions

(2009) Maria T.G. Perona et al.   BEHAVIOURAL PHARMACOLOGY

Analyzing biological network parameters with CentiScaPe

(2009) Giovanni Scardoni et al.   BIOINFORMATICS

Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation

(2009) Naoki Oshimori et al.   EMBO JOURNAL

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

(2009) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Candidate gene studies of ADHD: a meta-analytic review

(2009) Ian R. Gizer et al.   HUMAN GENETICS

 -Catenin Regulates Spine and Synapse Morphogenesis and Function in Hippocampal Neurons during Development

(2009) J. Arikkath et al.   JOURNAL OF NEUROSCIENCE

Mrpl36 Is Important for Generation of Assembly Competent Proteins during Mitochondrial Translation

(2009) Martin Prestele et al.   MOLECULAR BIOLOGY OF THE CELL

Activation of oxidative stress signaling that is implicated in apoptosis with a mouse model of diabetic embryopathy

(2008) Peixin Yang et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY