List of works - Katherina Walz

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

scientific article

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men

scientific article (publication date: 2012)

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

scientific article

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

scientific article published on 31 December 2014

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome

scientific article published on 08 May 2019

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

scientific article published on 6 January 2004

COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

scientific journal article

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

scientific article

Copy number variation and susceptibility to complex traits ⬇️

scientific article published on December 23, 2010

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory

scientific article

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

scientific article

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

scientific article published on 7 September 2011

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

scientific article

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development

scientific article published on 04 March 2010

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

scientific article published in February 2006

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

scientific article

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

scientific article

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

scientific article published on 28 June 2013

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

scientific article

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

scientific article published on 30 September 2004

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models ⬇️

scientific article published on November 23, 2010

Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease

scientific article

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome

scientific article

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

scientific article

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

scientific article

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

scientific article published on 30 September 2004

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior ⬇️

scientific article

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain

scientific article published on 26 October 2018

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

scientific article published on 3 November 2014

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes ⬇️

scientific article published on August 10, 2011

Transient receptor potential channel 6 (TRPC6) protects podocytes during complement-mediated glomerular disease.

scientific article

Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome

scientific article

cDNA cloning, biochemical and phylogenetic characterization of beta- and beta'-subunits of Candida albicans protein kinase CK2.

scientific article

List of works by Katherina Walz

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

COP9 signalosome subunit 3 is essential for maintenance of cell proliferation in the mouse embryonic epiblast

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

Copy number variation and susceptibility to complex traits ⬇️

Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development

Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT

Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance.

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models ⬇️

Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).

Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior ⬇️

Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation

Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome

Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes ⬇️

Transient receptor potential channel 6 (TRPC6) protects podocytes during complement-mediated glomerular disease.

Unconventional transcriptional response to environmental enrichment in a mouse model of Rett syndrome

cDNA cloning, biochemical and phylogenetic characterization of beta- and beta'-subunits of Candida albicans protein kinase CK2.