16p11.2 transcription factorMAZis a dosage-sensitive regulator of genitourinary development

“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result

(2016) Ella J. Wilkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

(2016) Loyse Hippolyte et al.   BIOLOGICAL PSYCHIATRY

Impairment of Wnt11 function leads to kidney tubular abnormalities and secondary glomerular cystogenesis

(2016) Irina I. Nagy et al.   BMC DEVELOPMENTAL BIOLOGY

Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications

(2016) Yi Shin Chang et al.   HUMAN BRAIN MAPPING

Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing

(2016) Xiangyu Zhu et al.   PRENATAL DIAGNOSIS

Paracrine Wnt/β-catenin signaling mediates proliferation of undifferentiated spermatogonia in the adult mouse testis

(2016) Hinako M. Takase et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MAZ mediates the cross-talk between CT-1 and NOTCH1 signaling during gliogenesis

(2016) Bin Liu et al.   Scientific Reports

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

(2016) Thomas Arbogast et al.   PLoS Genetics

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

(2016) Debra D’Angelo et al.   JAMA Psychiatry

Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude

(2016) Jocelyn J. LeBlanc et al.   Molecular Autism

Wnt4 coordinates directional cell migration and extension of the Müllerian duct essential for ontogenesis of the female reproductive tract

(2015) Renata Prunskaite-Hyyryläinen et al.   HUMAN MOLECULAR GENETICS

Genetic, environmental and epigenetic factors involved in CAKUT

(2015) Nayia Nicolaou et al.   Nature Reviews Nephrology

Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children

(2015) Neveen A Soliman et al.   NEPHROLOGY

Congenital anomalies of the kidney and urinary tract genetics in mice and men

(2015) Georgina Caruana et al.   NEPHROLOGY

Copy number variation and brain structure: lessons learned from chromosome 16p11.2

(2015) Jason L Stein   Genome Medicine

Abnormal auditory and language pathways in children with 16p11.2 deletion

(2015) Jeffrey I. Berman et al.   NeuroImage-Clinical

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

(2014) Maria M. Rodriguez   Fetal and Pediatric Pathology

CrkL regulates SDF-1-induced breast cancer biology through balancing Erk1/2 and PI3K/Akt pathways

(2014) Xin Lian et al.   MEDICAL ONCOLOGY

FTO genotype and aging: pleiotropic longitudinal effects on adiposity, brain function, impulsivity and diet

(2014) Y-F Chuang et al.   MOLECULAR PSYCHIATRY

HRASis silenced by two neighboring G-quadruplexes and activated by MAZ, a zinc-finger transcription factor with DNA unfolding property

(2014) Susanna Cogoi et al.   NUCLEIC ACIDS RESEARCH

Coordination of kidney organogenesis by Wnt signaling

(2014) Kimmo Halt et al.   PEDIATRIC NEPHROLOGY

R-spondin1, WNT4, and the CTNNB1 signaling pathway: strict control over ovarian differentiation

(2014) Anne-Amandine Chassot et al.   REPRODUCTION

Induction of Ras by SAF-1/MAZ through a feed-forward loop promotes angiogenesis in breast cancer

(2014) Alpana Ray et al.   Cancer Medicine

The Canonical WNT2 Pathway and FSH Interact to Regulate Gap Junction Assembly in Mouse Granulosa Cells1

(2013) Hong-Xing Wang et al.   BIOLOGY OF REPRODUCTION

Pathogenic or not? Assessing the clinical relevance of copy number variants

(2013) JY Hehir-Kwa et al.   CLINICAL GENETICS

Dkk1 in the peri-cloaca mesenchyme regulates formation of anorectal and genitourinary tracts

(2013) Chaoshe Guo et al.   DEVELOPMENTAL BIOLOGY

The prostate cancer-up-regulated myc-associated zinc-finger protein (MAZ) modulates proliferation and metastasis through reciprocal regulation of androgen receptor

(2013) Li Jiao et al.   MEDICAL ONCOLOGY

MAZ-binding G4-decoy with locked nucleic acid and twisted intercalating nucleic acid modifications suppresses KRAS in pancreatic cancer cells and delays tumor growth in mice

(2013) Susanna Cogoi et al.   NUCLEIC ACIDS RESEARCH

Dickkopf Homolog 3 (DKK3) Plays a Crucial Role Upstream of WNT/β-CATENIN Signaling for Sertoli Cell Mediated Regulation of Spermatogenesis

(2013) Deepika Sharma Das et al.   PLoS One

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns

(2013) Tracy Tucker et al.   Molecular Genetics & Genomic Medicine

World of Reproductive Biology

(2012) Charlotte Schubert   BIOLOGY OF REPRODUCTION

Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

(2012) E. Wuhl et al.   Clinical Journal of the American Society of Nephrology

Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes

(2012) A. Blaker-Lee et al.   Disease Models & Mechanisms

Myc-associated zinc finger protein (MAZ) is regulated by miR-125b and mediates VEGF-induced angiogenesis in glioblastoma

(2012) Michiel Smits et al.   FASEB JOURNAL

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

ZNF764Haploinsufficiency May Explain Partial Glucocorticoid, Androgen, and Thyroid Hormone Resistance Associated with 16p11.2 Microdeletion

(2012) Tomoshige Kino et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Role of Copy Number Variants in Structural Birth Defects: TABLE 1

(2012) Abigail E. Southard et al.   PEDIATRICS

Mechanisms by Which Interleukin-6 Regulates Prostate-Specific Antigen Gene Expression in Prostate LNCaP Carcinoma Cells

(2011) K.-H. Tsui et al.   JOURNAL OF ANDROLOGY

High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia

(2011) S. Nik-Zainal et al.   JOURNAL OF MEDICAL GENETICS

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Zinc-finger transcription factors are associated with guanine quadruplex motifs in human, chimpanzee, mouse and rat promoters genome-wide

(2011) Pankaj Kumar et al.   NUCLEIC ACIDS RESEARCH

A High Throughput in situ Hybridization Method to Characterize mRNA Expression Patterns in the Fetal Mouse Lower Urogenital Tract

(2011) Lisa L. Abler et al.   Jove-Journal of Visualized Experiments

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

(2010) Yiping Shen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Cognitive and Behavioral Characterization of 16p11.2 Deletion Syndrome

(2010) Ellen Hanson et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

(2010) Mounia Tannour-Louet et al.   PLoS One

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

Characterization of the murine Ephrin-B2 promoter

(2009) Marcus Sohl et al.   GENE

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

(2009) Jill A. Rosenfeld et al.   Journal of Neurodevelopmental Disorders

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Tissue-specific requirements of  -catenin in external genitalia development

(2008) C. Lin et al.   DEVELOPMENT

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

WNT/β-catenin signaling in nephron progenitors and their epithelial progeny

(2008) Kai M. Schmidt-Ott et al.   KIDNEY INTERNATIONAL

Mechanical strain activates a program of genes functionally involved in paracrine signaling of angiogenesis

(2008) Ru Yang et al.   PHYSIOLOGICAL GENOMICS