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Department of Internal Medicine

Endocrinology, Diabetes and Metabolism

Photo of  Shailendra Patel, PhD

Shailendra Patel, PhD

Clinical Interest


Research Interests

Biological Effects of Xenosterols On The Mammalian Body The normal human diet consists not only of cholesterol, but also xenosterols, such as plant sterols, but the mammalian body uses a number of different mechanisms to protect itself against the entry and effect of dietary xenosterols. One of these mechanisms was identified by us when we elucidated the gene defect causing the human disorder of sitosterolemia. Our current research now focuses on how xenosterols affect mammalian metabolism, ranging from their effects on adipose tissue, arterial wall and platelet development. This research uses animal models, as well as clinical studies. These studies have involved humans genetic mapping, and positional cloning, clinical studies aimed at defining the physiological defects, as well as development of knockout and transgenic mouse models to identify the underlying mechanisms. In addition, we also identified a commonly used rat model, SHR, that also has defects in xenosterol trafficking and have created a congenic rat model to study the pathophysiology. We have created mouse models that lack Abcg8, as well as Abcg5, we have developed special diets to restrict or control xenosterol intakes and made congenic rats that carry a mutant Abcg5 allele on the SD background and a wild-type Abcg5 allele on the SHR background (the SHR has a natural mutation in the Abcg5 gene).


Endocrinology-Diabetes and Metabolism
Internal Medicine

  • B.A.: Oxford University
  • Doctor of Philosophy: Oxford University
  • B.M., B. Ch.: Oxford University
Board Certifications & Licenses
  • American Board of Internal Medicine (Endocrinology-Diabetes and Metabolism) 11/03/2004
  • American Board of Internal Medicine 08/19/2003
Contact Information
  • 231 Albert Sabin Way
  • Cincinnati, Ohio 45267-0547
  • Office 513-558-4444
  • Fax 513-558-8581

Peer Reviewed Publications

Patel, Shailendra B; Graf, Gregory; Temel, Ryan 2018. ABCG5 and ABCG8: More than a defense against xenosterols. Journal of lipid research, ,

Bazerbachi, Fateh; Conboy, Erin E; Mounajjed, Taofic; Watt, Kymberly D; Babovic-Vuksanovic, Dusica; Patel, Shailendra B; Kamath, Patrick S 2017. Cryptogenic Cirrhosis and Sitosterolemia: A Treatable Disease If Identified but Fatal If Missed. Annals of hepatology, 16 6, 970-978

Dodacki, Agnès; Wortman, Matthew; Saubaméa, Bruno; Chasseigneaux, Stéphanie; Nicolic, Sophie; Prince, Nathalie; Lochus, Murielle; Raveu, Anne-Laure; Declèves, Xavier; Scherrmann, Jean-Michel; Patel, Shailendra B; Bourasset, Fanchon 2017. Expression and function of Abcg4 in the mouse blood-brain barrier: role in restricting the brain entry of amyloid-? peptide. Scientific reports, 7 1, 13393

Konersman, Chamindra G; Freyermuth, Fernande; Winder, Thomas L; Lawlor, Michael W; Lagier-Tourenne, Clotilde; Patel, Shailendra B 2017. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Molecular genetics & genomic medicine, 5 6, 678-691

Lange, Philip T; Darrah, Eric J; Vonderhaar, Emily P; Mboko, Wadzanai P; Rekow, Michaela M; Patel, Shailendra B; Sidjanin, Duska J; Tarakanova, Vera L 2016. Type I Interferon Counteracts Antiviral Effects of Statins in the Context of Gammaherpesvirus Infection. Journal of virology, 90 7, 3342-54

Wang, Helen H; Li, Xiaodan; Patel, Shailendra B; Wang, David Q-H 2016. Evidence that the adenosine triphosphate-binding cassette G5/G8-independent pathway plays a determinant role in cholesterol gallstone formation in mice. Hepatology (Baltimore, Md.), 64 3, 853-64

Appadurai, Vivek; DeBarber, Andrea; Chiang, Pei-Wen; Patel, Shailendra B; Steiner, Robert D; Tyler, Charles; Bonnen, Penelope E 2015. Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. Molecular genetics and metabolism, 116 4, 298-304

Jialal, Ishwarlal; Patel, Shailendra B 2015. PCSK9 inhibitors: the next frontier in low-density lipoprotein lowering. Metabolic syndrome and related disorders, 13 3, 99-101

Nghiem-Rao, T Hang; Tunc, Ilker; Mavis, Alisha M; Cao, Yumei; Polzin, Elizabeth M; Firary, Mary F; Wang, Xujing; Simpson, Pippa M; Patel, Shailendra B 2015. Kinetics of phytosterol metabolism in neonates receiving parenteral nutrition. Pediatric research, 78 2, 181-9

Patel, Shailendra B 2015. Mendel, molecular biology, and apolipoprotein C-III: a heady combination. Metabolic syndrome and related disorders, 13 2, 55-6

Weingärtner, Oliver; Lütjohann, Dieter; Patel, Shailendra B 2015. Mutations in NPC1L1 and coronary heart disease. The New England journal of medicine, 372 9, 881-2

Altemus, Jessica B; Patel, Shailendra B; Sehayek, Ephraim 2014. Liver-specific induction of Abcg5 and Abcg8 stimulates reverse cholesterol transport in response to ezetimibe treatment. Metabolism: clinical and experimental, 63 10, 1334-41

Mboko, Wadzanai P; Mounce, Bryan C; Emmer, Joseph; Darrah, Eric; Patel, Shailendra B; Tarakanova, Vera L 2014. Interferon regulatory factor 1 restricts gammaherpesvirus replication in primary immune cells. Journal of virology, 88 12, 6993-7004

Patel, Shailendra B 2014. Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology. Current opinion in lipidology, 25 3, 169-75

Kanaji, Taisuke; Kanaji, Sachiko; Montgomery, Robert R; Patel, Shailendra B; Newman, Peter J 2013. Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. Blood, 122 15, 2732-42

Nghiem-Rao, T Hang; Patel, Shailendra B 2013. Investigating Sitosterolemia to Understand Lipid Physiology. Clinical lipidology, 8 3, 649-658

Solca, Curzio; Tint, G Stephen; Patel, Shailendra B 2013. Dietary xenosterols lead to infertility and loss of abdominal adipose tissue in sterolin-deficient mice. Journal of lipid research, 54 2, 397-409

Kidambi, Srividya; Ghosh, Soumitra; Kotchen, Jane M; Grim, Clarence E; Krishnaswami, Shanthi; Kaldunski, Mary L; Cowley, Allen W; Patel, Shailendra B; Kotchen, Theodore A 2012. Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans. BMC medical genetics, 13 , 27

Kidambi, Srividya; Ghosh, Soumitra; Kotchen, Jane M; Grim, Clarence E; Krishnaswami, Shanthi; Kaldunski, Mary L; Cowley, Allen W; Patel, Shailendra B; Kotchen, Theodore A 2012. Non-replication study of a genome-wide association study for hypertension and blood pressure in African Americans. BMC medical genetics, 13 , 27

Patel, Shailendra B 2011. Location, location, location...again. Journal of lipid research, 52 3, 417-8

Patel, Shailendra B; Steiner, Robert D 2010. In Memoriam: William E. Connor (1921-2009). Journal of lipid research, 51 4, 679-81

Alcalay, Roy; Wu, Stacy; Patel, Shailendra; Frucht, Steven 2009. Oromandibular dystonia as a complication of cerebrotendinous xanthomatosis. Movement disorders : official journal of the Movement Disorder Society, 24 9, 1397-9

Matabosch, Xavier; Rahman, Mahbuba; Hughes, Beverly; Patel, Shailendra B; Watson, Gordon; Shackleton, Cedric 2009. Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Delta7-sterol reductase (Dhcr7), the enzyme associated with Smith-Lemli-Opitz syndrome. The Journal of steroid biochemistry and molecular biology, 116 1-2, 61-70

Kidambi, S; Patel, S B 2008. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis. Journal of clinical pathology, 61 5, 588-94

Kidambi, S; Patel, S B 2008. Cholesterol and non-cholesterol sterol transporters: ABCG5, ABCG8 and NPC1L1: a review. Xenobiotica; the fate of foreign compounds in biological systems, 38 7-8, 1119-39

Kidambi, Srividya; Patel, Shailendra B 2008. Diabetes mellitus: considerations for dentistry. Journal of the American Dental Association (1939), 139 Suppl , 8S-18S

Patel, Shailendra B 2008. Closing comment. Journal of clinical lipidology, 2 4, 308

Patel, Shailendra B 2008. Counterpoint: Sorting wheat from chaff. Journal of clinical lipidology, 2 4, 306-7

Patel, Shailendra B 2008. Plant sterols and stanols: their role in health and disease. Journal of clinical lipidology, 2 2, S11-9

Hazard, Starr E; Patel, Shailendra B 2007. Sterolins ABCG5 and ABCG8: regulators of whole body dietary sterols. Pflugers Archiv : European journal of physiology, 453 5, 745-52

Solcà, Curzio; Pandit, Bhaswati; Yu, Hongwei; Tint, G Stephen; Patel, Shailendra B 2007. Loss of apolipoprotein E exacerbates the neonatal lethality of the Smith-Lemli-Opitz syndrome mouse. Molecular genetics and metabolism, 91 1, 7-14

Wang, Helen H; Patel, Shailendra B; Carey, Martin C; Wang, David Q-H 2007. Quantifying anomalous intestinal sterol uptake, lymphatic transport, and biliary secretion in Abcg8(-/-) mice. Hepatology (Baltimore, Md.), 45 4, 998-1006

Yu, Hongwei; Li, Man; Tint, G Stephen; Chen, Jianliang; Xu, Guorong; Patel, Shailendra B 2007. Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. BMC developmental biology, 7 , 27

Yu, Hongwei; Wakim, Bassam; Li, Man; Halligan, Brian; Tint, G Stephen; Patel, Shailendra B 2007. Quantifying raft proteins in neonatal mouse brain by 'tube-gel' protein digestion label-free shotgun proteomics. Proteome science, 5 , 17

Kosters, Astrid; Kunne, Cindy; Looije, Norbert; Patel, Shailendra B; Oude Elferink, Ronald P J; Groen, Albert K 2006. The mechanism of ABCG5/ABCG8 in biliary cholesterol secretion in mice. Journal of lipid research, 47 9, 1959-66

Miettinen, Tatu A; Klett, Eric L; Gylling, Helena; Isoniemi, Helena; Patel, Shailendra B 2006. Liver transplantation in a patient with sitosterolemia and cirrhosis. Gastroenterology, 130 2, 542-7

Pandit, Bhaswati; Ahn, Gwang-Sook; Hazard, Starr E; Gordon, Derek; Patel, Shailendra B 2006. A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans. BMC medical genetics, 7 , 13

Salen, Gerald; Starc, Thomas; Sisk, Christine McCrary; Patel, Shailendra B 2006. Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. Gastroenterology, 130 6, 1853-7

Tint, G S; Yu, Hongwei; Shang, Quan; Xu, Guorong; Patel, Shailendra B 2006. The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols. Journal of lipid research, 47 7, 1535-41

Chen, Jianliang; Batta, Ashok; Zheng, Shuqin; Fitzgibbon, Wayne R; Ullian, Michael E; Yu, Hongwei; Tso, Patrick; Salen, Gerald; Patel, Shailendra B 2005. The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. BMC genetics, 6 , 40

Kosters, Astrid; Frijters, Raoul J J M; Kunne, Cindy; Vink, Edwin; Schneiders, Marit S; Schaap, Frank G; Nibbering, Catherina P; Patel, Shailendra B; Groen, Albert K 2005. Diosgenin-induced biliary cholesterol secretion in mice requires Abcg8. Hepatology (Baltimore, Md.), 41 1, 141-50

Solcà, C; Stanga, Z; Pandit, B; Diem, P; Greeve, J; Patel, S B 2005. Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots. Clinical genetics, 68 2, 174-8

Yu, H; Patel, S B 2005. Recent insights into the Smith-Lemli-Opitz syndrome. Clinical genetics, 68 5, 383-91

Yu, Hongwei; Wessels, Andy; Tint, G Stephen; Patel, Shailendra B 2005. Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression. Brain research. Developmental brain research, 156 1, 46-60

Gordon, Derek; Haynes, Chad; Johnnidis, Christopher; Patel, Shailendra B; Bowcock, Anne M; Ott, Jürg 2004. A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents. European journal of human genetics : EJHG, 12 9, 752-61

Gupta, Ram P; Hollis, Bruce W; Patel, Shailendra B; Patrick, Kennerly S; Bell, Norman H 2004. CYP3A4 is a human microsomal vitamin D 25-hydroxylase. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 19 4, 680-8

Klett, Eric L; Lee, Mi-Hye; Adams, David B; Chavin, Kenneth D; Patel, Shailendra B 2004. Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. BMC gastroenterology, 4 , 21

Klett, Eric L; Lu, Kangmo; Kosters, Astrid; Vink, Edwin; Lee, Mi-Hye; Altenburg, Michael; Shefer, Sarah; Batta, Ashok K; Yu, Hongwei; Chen, Jianliang; Klein, Richard; Looije, Norbert; Oude-Elferink, Ronald; Groen, Albert K; Maeda, Nobuyo; Salen, Gerald; Patel, Shailendra B 2004. A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. BMC medicine, 2 , 5

Klett, Eric L; Patel, Shailesh B 2004. Biomedicine. Will the real cholesterol transporter please stand up. Science (New York, N.Y.), 303 5661, 1149-50

Patel, Shailendra B 2004. Ezetimibe: a novel cholesterol-lowering agent that highlights novel physiologic pathways. Current cardiology reports, 6 6, 439-42

Salen, G; von Bergmann, K; Lütjohann, D; Kwiterovich, P; Kane, J; Patel, S B; Musliner, T; Stein, P; Musser, B 2004. Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia. Circulation, 109 8, 966-71

Yu, Hongwei; Wessels, Andy; Chen, Jianliang; Phelps, Aimee L; Oatis, John; Tint, G Stephen; Patel, Shailendra B 2004. Late gestational lung hypoplasia in a mouse model of the Smith-Lemli-Opitz syndrome. BMC developmental biology, 4 , 1

Yu, Hongwei; Pandit, Bhaswati; Klett, Eric; Lee, Mi-Hye; Lu, Kangmo; Helou, Khalil; Ikeda, Ikuo; Egashira, Nami; Sato, Masao; Klein, Richard; Batta, Ashok; Salen, Gerald; Patel, Shailendra B 2003. The rat STSL locus: characterization, chromosomal assignment, and genetic variations in sitosterolemic hypertensive rats. BMC cardiovascular disorders, 3 , 4

Lu, Kangmo; Lee, Mi-Hye; Yu, Hongwei; Zhou, Yuehua; Sandell, Shelley A; Salen, Gerald; Patel, Shailendra B 2002. Molecular cloning, genomic organization, genetic variations, and characterization of murine sterolin genes Abcg5 and Abcg8. Journal of lipid research, 43 4, 565-78

Fitzky, B U; Moebius, F F; Asaoka, H; Waage-Baudet, H; Xu, L; Xu, G; Maeda, N; Kluckman, K; Hiller, S; Yu, H; Batta, A K; Shefer, S; Chen, T; Salen, G; Sulik, K; Simoni, R D; Ness, G C; Glossmann, H; Patel, S B; Tint, G S 2001. 7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndrome. The Journal of clinical investigation, 108 6, 905-15

Lee, M H; Gordon, D; Ott, J; Lu, K; Ose, L; Miettinen, T; Gylling, H; Stalenhoef, A F; Pandya, A; Hidaka, H; Brewer, B; Kojima, H; Sakuma, N; Pegoraro, R; Salen, G; Patel, S B 2001. Fine mapping of a gene responsible for regulating dietary cholesterol absorption; founder effects underlie cases of phytosterolaemia in multiple communities. European journal of human genetics : EJHG, 9 5, 375-84

Lee, M H; Hazard, S; Carpten, J D; Yi, S; Cohen, J; Gerhardt, G T; Salen, G; Patel, S B 2001. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. Journal of lipid research, 42 2, 159-69

Lee, M H; Lu, K; Hazard, S; Yu, H; Shulenin, S; Hidaka, H; Kojima, H; Allikmets, R; Sakuma, N; Pegoraro, R; Srivastava, A K; Salen, G; Dean, M; Patel, S B 2001. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nature genetics, 27 1, 79-83

Lee, M H; Lu, K; Patel, S B 2001. Genetic basis of sitosterolemia. Current opinion in lipidology, 12 2, 141-9

Lu, K; Lee, M H; Carpten, J D; Sekhon, M; Patel, S B 2001. High-resolution physical and transcript map of human chromosome 2p21 containing the sitosterolaemia locus. European journal of human genetics : EJHG, 9 5, 364-74

Lu, K; Lee, M H; Hazard, S; Brooks-Wilson, A; Hidaka, H; Kojima, H; Ose, L; Stalenhoef, A F; Mietinnen, T; Bjorkhem, I; Bruckert, E; Pandya, A; Brewer , H B; Salen, G; Dean, M; Srivastava, A; Patel, S B 2001. Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively. American journal of human genetics, 69 2, 278-90

Lu, K; Lee, M H; Patel, S B 2001. Dietary cholesterol absorption; more than just bile. Trends in endocrinology and metabolism: TEM, 12 7, 314-20

Shelton, J M; Lee, M H; Richardson, J A; Patel, S B 2000. Microsomal triglyceride transfer protein expression during mouse development. Journal of lipid research, 41 4, 532-7

Yu, H; Lee, M H; Starck, L; Elias, E R; Irons, M; Salen, G; Patel, S B; Tint, G S 2000. Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. Human molecular genetics, 9 9, 1385-91

Yu, H; Tint, G S; Salen, G; Patel, S B 2000. Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. American journal of medical genetics, 90 4, 347-50

Garg, A; Wilson, R; Barnes, R; Arioglu, E; Zaidi, Z; Gurakan, F; Kocak, N; O'Rahilly, S; Taylor, S I; Patel, S B; Bowcock, A M 1999. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. The Journal of clinical endocrinology and metabolism, 84 9, 3390-4

Wu, J; Zhu, Y H; Patel, S B 1999. Cyclosporin-induced dyslipoproteinemia is associated with selective activation of SREBP-2. The American journal of physiology, 277 6 Pt 1, E1087-94

Berger, G M; Pegoraro, R J; Patel, S B; Naidu, P; Rom, L; Hidaka, H; Marais, A D; Jadhav, A; Naoumova, R P; Thompson, G R 1998. HMG-CoA reductase is not the site of the primary defect in phytosterolemia. Journal of lipid research, 39 5, 1046-54

Patel, S B; Honda, A; Salen, G 1998. Sitosterolemia: exclusion of genes involved in reduced cholesterol biosynthesis. Journal of lipid research, 39 5, 1055-61

Patel, S B; Salen, G; Hidaka, H; Kwiterovich, P O; Stalenhoef, A F; Miettinen, T A; Grundy, S M; Lee, M H; Rubenstein, J S; Polymeropoulos, M H; Brownstein, M J 1998. Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21. The Journal of clinical investigation, 102 5, 1041-4

Li, X; Grundy, S M; Patel, S B 1997. Obesity in db and ob animals leads to impaired hepatic very low density lipoprotein secretion and differential secretion of apolipoprotein B-48 and B-100. Journal of lipid research, 38 7, 1277-88

Nemeth-Slany, A; Talmud, P; Grundy, S M; Patel, S B 1997. Activation of a cryptic splice-site in intron 24 leads to the formation of apolipoprotein B-27.6. Atherosclerosis, 133 2, 163-70

Patel, S B; Grundy, S M 1996. Interactions between microsomal triglyceride transfer protein and apolipoprotein B within the endoplasmic reticulum in a heterologous expression system. The Journal of biological chemistry, 271 31, 18686-94

Patel, S B; Grundy, S M 1995. Heterologous expression of apolipoprotein B carboxyl-terminal truncates: a model for the study of lipoprotein biogenesis. Journal of lipid research, 36 10, 2090-103

Patel, S B; Mahler, R 1990. Clostridial pleuropulmonary infections: case report and review of the literature. The Journal of infection, 21 1, 81-5

Jackson, D A; Cook, P R; Patel, S B 1984. Attachment of repeated sequences to the nuclear cage. Nucleic acids research, 12 17, 6709-26

Patel, S B; Cook, P R 1983. The DNA-protein cross: a method for detecting specific DNA-protein complexes in crude mixtures. The EMBO journal, 2 1, 137-42

Chen, JianLiang; Nittala, Aparna; Gao, Shouguo; Ghosh, Soumitra; Wang, Xujing; Patel, Shailendra . Kinetics of insulin secretion to acute, repetitive stimulation of islets in vivo in Sprague Dawley rats. Islets, 2 1, 10-7

Nghiem-Rao, T Hang; Dahlgren, Allison F; Kalluri, Deepti; Cao, Yumei; Simpson, Pippa M; Patel, Shailendra B . Influence of gestational age and birth weight in neonatal cholesterol response to total parenteral nutrition. Journal of clinical lipidology, 10 4, 891-897.e1

Weingärtner, Oliver; Teupser, Daniel; Patel, Shailendra B . The Atherogenicity of Plant Sterols: The Evidence from Genetics to Clinical Trials. Journal of AOAC International, 98 3, 742-9