Publications by authors named "Katherina Walz"

42Publications

Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival.

Front Cell Dev Biol 2020 8;8:576654. Epub 2020 Sep 8.

The Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, United States.

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http://dx.doi.org/10.3389/fcell.2020.576654DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509448PMC
September 2020

Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.

Am J Med Genet A 2019 07 8;179(7):1366-1370. Epub 2019 May 8.

Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida.

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http://dx.doi.org/10.1002/ajmg.a.61187DOI Listing
July 2019

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

J Mol Med (Berl) 2018 11 3;96(11):1227-1238. Epub 2018 Oct 3.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.

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http://link.springer.com/10.1007/s00109-018-1694-x
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http://dx.doi.org/10.1007/s00109-018-1694-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238639PMC
November 2018

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.

Biology (Basel) 2017 Apr 27;6(2). Epub 2017 Apr 27.

John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL 33136, USA.

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http://dx.doi.org/10.3390/biology6020025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485472PMC
April 2017

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Proc Natl Acad Sci U S A 2016 May 9;113(21):5993-8. Epub 2016 May 9.

John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136; Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, FL 33136; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL 33136

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http://dx.doi.org/10.1073/pnas.1522512113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4889368PMC
May 2016

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

Dev Cell 2015 Jan 31;32(1):31-42. Epub 2014 Dec 31.

Program in Neuroscience and Mental Health, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McEwen Center for Regenerative Medicine, University Health Network, Toronto, ON M5G 1L7, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X5, Canada; Department of Physiology, University of Toronto, Toronto, ON M5G 1X5, Canada. Electronic address:

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http://www.cell.com/developmental-cell/pdf/S1534-5807(14)007
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http://linkinghub.elsevier.com/retrieve/pii/S153458071400770
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http://dx.doi.org/10.1016/j.devcel.2014.11.031DOI Listing
January 2015

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

Hum Genet 2015 Feb 21;134(2):181-90. Epub 2014 Nov 21.

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, 1501 NW 10 Ave, BRB 610, M-860, Miami, FL, 33136, USA,

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http://dx.doi.org/10.1007/s00439-014-1509-2DOI Listing
February 2015

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

EMBO Mol Med 2014 Aug;6(8):1003-15

Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miami, FL, USA John P. Hussman Institute for Human Genomics, Miller School of Medicine University of Miami, Miami, FL, USA

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http://dx.doi.org/10.15252/emmm.201404044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154129PMC
August 2014

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

Proc Natl Acad Sci U S A 2014 Jul 23;111(27):9864-8. Epub 2014 Jun 23.

Dr. John T. Macdonald Foundation Department of Human Genetics,John P. Hussman Institute for Human Genomics, andDivision of Pediatric Genetics, Ankara University School of Medicine, Ankara 06100, Turkey

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http://dx.doi.org/10.1073/pnas.1401950111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4103326PMC
July 2014

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

Rare Dis 2014 3;2(1):e967151. Epub 2014 Nov 3.

Dr. John T Macdonald Foundation; Department of Human Genetics; University of Miami; FL, USA; John P. Hussman Institute for Human Genomics; University of Miami; FL, USA.

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http://dx.doi.org/10.4161/2167549X.2014.967151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755234PMC
March 2016

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

Pediatr Nephrol 2013 Nov 28;28(11):2143-7. Epub 2013 Jun 28.

Division of Pediatric Nephrology, Ankara University School of Medicine, 06100, Ankara, Turkey.

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http://dx.doi.org/10.1007/s00467-013-2530-8DOI Listing
November 2013

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

PLoS One 2012 18;7(9):e45155. Epub 2012 Sep 18.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0045155PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3445574PMC
February 2013

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

Am J Med Genet A 2012 Jul 25;158A(7):1579-88. Epub 2012 May 25.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35399DOI Listing
July 2012

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

Eur J Hum Genet 2012 Jan 10;20(1):69-76. Epub 2011 Aug 10.

Department of Biology, Centro de Estudios Científicos, Valdivia, Chile.

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http://dx.doi.org/10.1038/ejhg.2011.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234513PMC
January 2012

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

Curr Genomics 2010 Dec;11(8):607-17

John P. Hussman Institute for Human Genomics, Dr. John T. Macdonald Foundation, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

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http://dx.doi.org/10.2174/138920210793360952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3078685PMC
December 2010

Copy number variation and susceptibility to complex traits.

EMBO Mol Med 2011 Jan 23;3(1):1-4. Epub 2010 Dec 23.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.

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http://dx.doi.org/10.1002/emmm.201000111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3401997PMC
January 2011

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

Hum Mol Genet 2010 Jun 4;19(11):2177-90. Epub 2010 Mar 4.

Centro de Estudios Científicos, Valdivia 5110246, Chile.

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http://dx.doi.org/10.1093/hmg/ddq096DOI Listing
June 2010

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

J Clin Invest 2006 Nov 5;116(11):3035-41. Epub 2006 Oct 5.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1172/JCI28953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1590269PMC
November 2006

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

J Child Neurol 2006 Feb;21(2):93-8

Department of Neurology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/08830738060210021201DOI Listing
February 2006

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

Hum Genet 2004 Nov 30;115(6):515-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Room 604B, One Baylor Plaza, Houston, TX 77030-3498, USA.

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http://dx.doi.org/10.1007/s00439-004-1187-6DOI Listing
November 2004

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.

Hum Mol Genet 2004 Nov 30;13(21):2613-24. Epub 2004 Sep 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddh288DOI Listing
November 2004

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

Hum Mol Genet 2004 Feb 6;13(4):367-78. Epub 2004 Jan 6.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddh044DOI Listing
February 2004

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

Yeast 2003 Apr;20(6):471-8

Cátedra de Microbiología, Facultad de Agronomía, Universidad de Buenos Aires, IBYF-CONICET, Avda. San Martín 4453, 1417 Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/yea.977DOI Listing
April 2003