Maimoona A. Zariwala, PhD Associate Professor Office: 919-966-7050 E-mail: maimoona_zariwala@med.unc.edu

Research Interests

Genetic analysis of patients with primary ciliary dyskinesia (PCD).

Selected Publications

Zhang Z, Zariwala MA, Mahadevan MM, Caballero-Camp P, Shen X, Escudier E, Duriez B, Bridoux A-M, Leigh M, Gerton GL, Kennedy M, Amselem S, Knowles MR and Strauss III JF (2007) A heterozygous mutation disrupting the SPAG16 gene results in biochemical instability of central apparatus components of the sperm axoneme. Biology of Reproduction (in press).

Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH, Hoffmann ML, Jeng L, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu B_L, Zariwala MA and Schrijver I (2007) A Multicenter Study of the Frequency and Distribution of GJB2 and GJB6 Mutations in a Large North American Cohort. Genetics in Medicine 9: 413-426.

Morillas HN, Zariwala, M and Knowles MR (2007) Genetic causes of bronchiectasis: primary ciliary dyskinesia. Respiration 74: 252-263.

Zariwala MA, Omran H and Knowles MR (2007) Genetic defects in ciliary structure and function, Annual Review of Physiology 69: 423-450.

Zariwala M, Knowles M, Leigh M (January 2007) Primary Ciliary Dyskinesia in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2007. Available at http://www.genetests.org

Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala, MA and Knowles MR (2007) Congenital heart disease and othr heterotaxic defects in a large cohort of patient with Primary Ciliary Dyskinesia. Circulation 115: 2814-2821.

Kennedy MP, Noone PG, Leigh MW, Zariwala MA, Minnix SL, Knowles MR and Molina PL (2007) High-Resolution CT of patients with Primary Ciliary Dyskinesia. AJR American Journal of Roentgenology 188: 1232-1238.

Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridouz AM, Pennarucn G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EMK, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S and Knolwes MR (2006) Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of founder effect in a common mutation. American Journal of Respiratory and Critical Care Medicine 174: 858-866.

Kennedy MP, Noone PG, Carson J, Molina PL, Ghio A, Zariwala MA, Minnix SL, Knowles MR (2006) Calcium stone lithoptysis in primary ciliary dyskinesia. Respiratory Medicine 101: 76-83.

Hornef N, Olbrich H, Horvath J, Zariwala MA, Fliegauf M, Loges NT, Wildhaber J, Noone PG, Kennedy M, Antonarakis SE, Nusslein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles MR, Reinhardt R and Omran H (2006) DNAH5 mutations are common cause of Primary Ciliary Dyskinesia with outer dynein arm defects. American Journal of Respiratory and Critical Care Medicine 174: 120-126.

Noone PG, Zariwala M and Knowles MR: Primary Ciliary Dyskinesia in Runge MS, Patterson C (eds), Principles of Molecular Medicine, 2nd Edition, Humana Press, Totowa, New Jersey, 2005, Chapter 26, pp. 239-250.

Drumm ML, Knostan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA and Knowles MR (2005) Gene Modifiers of Lung disease in Cystic Fibrosis. New England Journal of Medicine 14: 1443-1453.

Horvath J, Fliegauf M, Olbrich H, Kispert A, King SM, Mitchison H, Zariwala MA, Knowles MR, Sudbrak R, Fekete G, Neesen J, Reinhardt R and Omran H (2005) Identification and analysis of axonemal dynein light chain 1 in Primary Ciliary Dyskinesia patients. American Journal of Respiratory Cell and Molecular Biology 33: 41-47.

Fliegauf M, Olbrich H, Horvath J, Wildhaber JH, Zariwala MA, Kennedy M, Knowles MR and Omran H (2005) Mis-localization of DNAH5 and DNAH9 in respiratory cells from Primary Ciliary Dyskinesia. American Journal of Respiratory and Critical Care Medicine 171: 1343-1349.

Chmura K, Chan ED, Noone PG, Zariwala M, Winn RA, Knowles MR, Iseman MD and Gardner EM (2005) A middle-aged woman with recurrent respiratory infections. Respiration: 72: 427-430.

Noone PG, Leigh MW, Sannuti A, Minnix SL, Carson JL, Hazucha M, Zariwala M and Knowles MR (2004) Primary Ciliary Dyskinesia: Diagnostic and phenotypic features. American Journal of Respiratory and Critical Care Medicine 30: 459-467.

Zariwala M, O’Neal W, Noone PG, Leigh MW, Knowles MR and Ostrowski LE (2004) Investigation of the possible role of a novel gene, DPCD, in Primary Ciliary Dyskinesia. American Journal of Respiratory Cell and Molecular Biology 169: 459-467.

Kispert A, Petry M, Olbrich H, Volz A, Ketelsen U-P, Horvath J, Melkaoui R, Omran H, Zariwala M, Noone PG and Knowles M (2003) Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations. Thorax 58: 552-554.

Olbrich H, Häffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EMK, Hildebrandt F, Sudbrak R and Omran H (2002) Mutations in DNAH5 cause Primary Ciliary Dyskinesia and Randomization of Left-Right Asymmetry. Nature Genetics 30: 143-144.

Zariwala M, Noone PG, Sannuti A, Minnix S, Zhou Z, Leigh MW, Hazucha M, Carson JL and Knowles MR (2001) Germline Mutations in an Intermediate Chain Dynein (DNAI1) cause Primary Ciliary Dyskinesia (PCD). American Journal of Respiratory Cell and Molecular Biology 25:577-583.

Adams V, Schmid S, Zariwala M, Schmid M, Kleihues P, Briner J and Schäfer R (1999) Prevalence of Human Papilloma Virus DNA in Head and Neck Cancers carrying Wild-type or Mutant p53 Tumor Suppressor Genes. Anticancer Research 19(1A): 1-6.

Zariwala M, Liu J and Xiong Y (1998) Cyclin E2, a novel Human G1 Cyclin and Activating partner of CDK2 and CDK3, is induced by Viral Oncoproteins. Oncogene 17: 2787-2798.

Tahara H, Smith AP, Gaz RD, Zariwala M, Xiong Y and Arnold A (1997) Parathyroid Tumor Suppressor on 1p: Analysis of the p18 Cyclin-Dependent Kinase Inhibitor Gene as a Candidate. Journal of Bone and Mineral Research 12: 1330-1334.

Contractor H, Zariwala M, Bugert P, Zeisler J and Kovacs G (1997) Mutation of p53 Tumor Suppressor Gene occurs preferentially in the Chromophobe type of Renal Cell Tumour. Journal of Pathology 181: 136-139.

Gemma A, Takenoshita S, Hagiwara K, Okamoto A, Spillare EA, McMenamin MG, Hussain SP, Forrester K, Zariwala M, Xiong Y and Harris CC (1996) Molecular Analysis of the Cyclin Dependent Kinase Inhibitor Genes p15INK4b/MTS2, p16INK4/MTS1, p18 and p19 in Human Cancer Cell Lines. International Journal of Cancer 68: 605-611.

Zariwala M and Xiong Y (1996) Lack of Mutation in the Cyclin-Dependent Kinase Inhibitor, p19INK4d, in Tumor-Derived Cell Lines and Primary Tumors. Oncogene 13: 2033-2038.

Zariwala M, Liu E and Xiong Y (1996) Mutational Analysis of the p16 family Cyclin-Dependent Kinase Inhibitors p15INK4b and p18INK4c in Tumor Derived Cell Lines and Primary Tumors. Oncogene 12: 451-455.

Guan K-L, Jenkins CW, Li Y, O'Keefe CL, Noh S, Wu X, Zariwala M, Matera AG and Xiong Y (1996) Isolation and Characterization of p19INK4d, a p16-related Inhibitor Specific to CDK6 and CDK4. Molecular Biology of Cell l7: 57-70.

Koduru PRK, Zariwala M, Soni M, Gong JZ, Xiong Y and Broome JD.(1995) Deletion of Cyclin-Dependent Kinase 4 Inhibitor Genes p15 and p16 in Non-Hodgkin's Lymphomas. Blood: 86: 2900-2905.

Zariwala M, Schmid S, Pfaltz M, Ohgaki H, Kleihues P and Schäfer R (1994) p53 gene Mutations in Oropharyngeal Carcinomas: A Comparison of Solitary and Multiple Primary Tumours and Lymph node Metastases. International Journal of Cancer 56: 807-811.