Katherina Walz

Research Associate Professor

  • 1141 Citations
19952019
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Research Output 1995 2019

  • 1141 Citations
  • 46 Article

Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss

Li, C., Bademci, G., Subasioglu, A., Diaz-Horta, O., Zhu, Y., Liu, J., Mitchell, T. G., Abad, C., Seyhan, S., Duman, D., Cengiz, F. B., Tokgoz-Yilmaz, S., Blanton, S. H., Farooq, A., Walz, K., Zhai, R. G. & Tekin, M., Jan 22 2019, In : Proceedings of the National Academy of Sciences of the United States of America. 116, 4, p. 1347-1352 6 p.

Research output: Contribution to journalArticle

GRB2 Adaptor Protein
Sensorineural Hearing Loss
Phosphotransferases
Proteins
Auditory Hair Cells

A rare de novo RAI1 gene mutation affecting BDNF-enhancer-driven transcription activity associated with autism and atypical smith-magenis syndrome presentation

Abad, C., Cook, M. M., Cao, L., Jones, J. R., Rao, N. R., Dukes-Rimsky, L., Pauly, R., Skinner, C., Wang, Y., Luo, F., Stevenson, R. E., Walz, K. & Srivastava, A. K., Jun 1 2018, In : Biology. 7, 2, 31.

Research output: Contribution to journalArticle

Smith-Magenis Syndrome
neurotrophins
retinoic acid
Brain-Derived Neurotrophic Factor
Transcription

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Bademci, G., Abad, C., Incesulu, A., Rad, A., Alper, O., Kolb, S. M., Cengiz, F. B., Diaz-Horta, O., Silan, F., Mihci, E., Ocak, E., Najafi, M., Maroofian, R., Yilmaz, E., Nur, B. G., Duman, D., Guo, S., Sant, D. W., Wang, G., Monje, P. V. & 5 othersHaaf, T., Blanton, S. H., Vona, B., Walz, K. & Tekin, M., Jul 1 2018, In : Human Genetics. 137, 6-7, p. 479-486 8 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Hearing Loss
Outer Auditory Hair Cells
Genes
Jews

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

Diaz-Horta, O., Abad, C., Cengiz, F. B., Bademci, G., Blackwelder, P., Walz, K. & Tekin, M., Nov 1 2018, In : Journal of Molecular Medicine. 96, 11, p. 1227-1238 12 p.

Research output: Contribution to journalArticle

Auditory Hair Cells
Stereocilia
Deafness
Cochlea
Post Translational Protein Processing
2 Citations (Scopus)

Rai1 haploinsufficiency is associated with social abnormalities in mice

Rao, N. R., Abad, C., Perez, I. C., Srivastava, A. K., Young, J. & Walz, K., Jun 1 2017, In : Biology. 6, 2, 25.

Research output: Contribution to journalArticle

Haploinsufficiency
Social Behavior
Smith-Magenis Syndrome
social behavior
Communication