DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Dynamin Binding Protein Is Required for Xenopus laevis Kidney Development

(2019) Bridget D. DeLay et al.   Frontiers in Physiology

Modeling congenital kidney diseases in Xenopus laevis

(2019) Alexandria T. M. Blackburn et al.   Disease Models & Mechanisms

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

(2019) Juan Arranz et al.   NEUROBIOLOGY OF DISEASE

Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

(2018) Esti Wahyu Widowati et al.   Biology Open

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

(2018) Amelie T. van der Ven et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Towards precision nephrology: the opportunities and challenges of genomic medicine

(2017) Jordan G. Nestor et al.   JOURNAL OF NEPHROLOGY

Sex-dependent expression of anti-Müllerian hormone (amh) and amh receptor 2 during sex organ differentiation and characterization of the Müllerian duct development in Xenopus tropicalis

(2016) Erika Jansson et al.   GENERAL AND COMPARATIVE ENDOCRINOLOGY

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

(2016) Mir Reza Bekheirnia et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

(2015) B W M van Bon et al.   MOLECULAR PSYCHIATRY

Evolutionary trend for metamery reduction and gonad shortening in Anurans revealed by comparison of gonad development

(2015) Rafal P. Piprek et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

TNXB Mutations Can Cause Vesicoureteral Reflux

(2013) R. A. Gbadegesin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Renal progenitors: an evolutionary conserved strategy for kidney regeneration

(2013) Paola Romagnani et al.   Nature Reviews Nephrology

Mutations in DSTYK and Dominant Urinary Tract Malformations

(2013) S. Sanna-Cherchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

(2012) Rajshekhar Chatterjee et al.   HUMAN GENETICS

Down's-syndrome-related kinase Dyrk1A modulates the p120-catenin-Kaiso trajectory of the Wnt signaling pathway

(2012) J. Y. Hong et al.   JOURNAL OF CELL SCIENCE

TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

(2012) Jean-Benoît Courcet et al.   JOURNAL OF MEDICAL GENETICS

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

(2011) Matthew N Bainbridge et al.   GENOME BIOLOGY

DYRK family of protein kinases: evolutionary relationships, biochemical properties, and functional roles

(2010) Sergi Aranda et al.   FASEB JOURNAL

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Organization of the pronephric kidney revealed by large-scale gene expression mapping

(2008) Daniela Raciti et al.   GENOME BIOLOGY