Recent Publications


AuthorsTitle, publication and date
Saggar AK and Bittles AH. Consanguinity and Child Health. Paediatrics and Child Health. In press. 2008
Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008; 40(2):232-6. Epub 2007 Dec 23
Davies DM, Johnson SR, Tattersfield AE, Kingswood JC, Cox JA, McCartney DL, Doyle T, Elmslie F, Saggar A, de Vries PJ, Sampson JR. Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. N Engl J Med. 2008; 10;358(2):200-3.
Doulton TW, Saggar-Malik AK, He FJ, Carney C, Markandu ND, Sagnella GA, MacGregor GA. The effect of sodium and angiotensin-converting enzyme inhibition on the classic circulating renin-angiotensin system in autosomal-dominant polycystic kidney disease patients. J Hypertens. 2006 May; 24(5):939-45.
Patel U, Simpson E, Kingswood JC, Saggar-Malik AK. Tuberose sclerosis complex: analysis of growth rates aids differentiation of renal cell carcinoma from atypical or minimal-fat-containing angiomyolipoma. Clin Radiol. 2005 Jun;60(6):665-73; discussion 663-4.
Whittock NV, Izatt L, Mann A, Homfray T, Bennett C, Mansour S, Hurst J, Fryer A, Saggar A, Barwell JG, Ellard S, Clayton PT. Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). The Soc for Investig Derm. 2003, October, 121 (4) 939 – 942.
Rossetti S, Chauveau D, Kubly V, Slezak JM, Saggar-Malik AK, Pei Y, Ong AC, Stewart F, Watson ML, Bergstralh EJ, Winearls, CG, Torres VE, Harris PC. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet 2003 June; 361 (9376) 2196-201.
Dong YB, Plange-Rhule J Owusu I, Micah F, Eastwood JB, Carter ND, Saggar-Malik AK, Cappuccio FP, Jeffery S. T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension. Genet Test. 2002 Spring; 6(1):63-65.
Rosseti S, Chauveau D, Walker D Saggar-Malik AK, Winearls CG, Torres VE, Harris PC. A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int. 2002 May;61(5):1588-1599.
Afzal AR, Florencio RN, Taylor R, Patton MA, Saggar-Malik AK, Jeffery S. Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion. Genet Test. 2000;4(4):365-370.
Saggar-Malik AK, Afzal AR, Swissman JS, Bland M, Sagnella GA, Eastwood JB, MacGregor GA, Jeffery S. Lack of association of ACE/angiotensinogen genotype with renal function in autosomal dominant polycystic kidney disease. Genet Test. 2000; 4(3):299-303.
Hateboer N, Torra R, Estivill E, Bogdanova N, Davies F, Lazarou L, v Dijk M, Breuning M, Saggar-Malik A, Jeffery S, San Millan J L, Martinez I, Walker R, Holmans P, Ravine D. Location of mutations within the PKD2 gene influences outcome. Kidney International, 2000. 57, 1444-1451
Jeffery S Crosby A Plange-Rhule, J., Amoah-Danquah J., Acheampong JW., Eastwood J., Saggar-Malik AK. Evidence from a Ghanian population of known African descent to support the proposition that haemochromatosis is a Caucasian disorder. Genetic testing 1999 3,375-378
Jeffery S., Saggar-Malik AK., Crosby A., Bland M., Eastwood J., Amoah-Danquah J., Acheampong JW., Plange-Rhule, J. A dominant relationship between the ACE-D allele and serum ACE levels in a Ghanaian population J.Med Genet 1999. 36 869-870.
Afzal. A. R., Hand, M., Ternes-Pereira, E., Saggar-Malik, AK., Taylor, R., Jeffery, S. Novel Mutations in the 3’ region of the polycystic kidney disease 1 (PKD1) gene. Human Mutation. 1999. 105, 648-653.
Plange-Rhule, J, Phillips, R, Acheampong, JW, Saggar-Malik, AK, Eastwood. J, Cappuccio, FPHypertension and renal failure in Kumasi, Ghana. 1999. J Human Hypertension, 13, 37-40
Hateboer, N, v Dijk M, Bogdanova N, Coto E, Jeffery S, Saggar-Malik AK, San Milan J L, Torra R, Breuning M, Holmans P, Ravine D. Polycystic Kidney Disease types 1 and 2:a comparison of phenotypes. Lancet 9 January 1999
Jeffery S, Economides DL., Saggar-Malik AK, MacDermott KD, Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease. Clinical Genetics 1998. 53,303-307.
Sagnella, GA, Saggar-Malik, AK, Buckley, MG, Markandu, ND, Eastwood, JB, MacGregor, GA. Association between atrial natriuretic peptide and cyclic GMP in hypertension and in chronic renal failure. Clinica Chemica Acta 275, 9-18, 1998
MacDermott KD, Saggar-Malik AK, Economides DL, Jeffery S. Prenatal diagnosis for autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease J Med Genet 35 1 13-16, 1998
Weston, BS, Jeffery, S, Jeffrey I, Sharaf, FA, Carter N, Saggar-Malik AK, Price, RG. Polycystin expression during embryonic development of human kidney in adult tissues and ADPKD tissue. Histochem J 29, 847-856. 1997
Saggar-Malik AK, Markandu, ND, MacGregor, GA, Cappuccio FP. Case report: Moderate salt restriction for the management of hypertension and hypercalciuria. J Human Hypertens 10, 811-813. 1996
Saggar-Malik AK. Making the change. A guide to changing antihypertensive therapy in the elderly. (Editorial) Geriatrics, 10, 1996
Saggar-Malik AK and Patton, M. A. Original contributions by medical students. BMJ 1997
Buckley MG, Saggar-Malik AK, Markandu ND, Sagnella GA, MacGregor GA. Effects of changes in dietary sodium intake on plasma brain natriuretic peptide levels in patients with autosomal dominant polycystic kidney disease. J Hum Hyperten, 10, 1996
Jeffery S, Morgan S, Warmington VJ, MacGregor GA, Saggar-Malik AK. A family with autosomal dominant polycystic kidney disease not linked to 4q21-23 J Med Genet 1995, 32 493-94
Bath PMW, Saggar-Malik AK, MacDougall I, Eastwood JB, MacGregor1995. Increased platelet volume in autosomal dominant polycystic kidney disease Platelets 1995 6 (6): 336-339
Jeffery, S, Saggar-Malik AK, Morgan, S, Eastwood, JB, Patton, M. Genetic analysis of 20 families with autosomal dominant polycystic kidney disease from the South West Thames Region. Clinical Genetics, 1995; 77, (6) 290-4
Mathiu I, Saggar-Malik AK, Carter N. Characterisation and expression of CA-4 receptor activity in EaHY 926 (UveX) endothelial cell line. Biochemical Transactions and Proceedings 13, 635, 1995
Buckenham T, Saggar-Malik AK. Alcohol for parenchymal cysts. Australasian Radiology 1994 38: 85-86.
Saggar-Malik AK, Jeffery, S. and Patton, M. A. Autosomal dominant polycystic kidney disease. (Editorial) British Medical Journal, 308: 1183-1184, 1994.
Saggar-Malik AK, Missouris, C. G., Gill, J. S., Singer, D. R. J., Markandu, N. D. and MacGregor, G. ALeft ventricular mass in normotensive subjects with autosomal dominant polycystic kidney disease. British Medical Journal 1994 309: 1617-1618.
Jeffery, S., Saggar-Malik AK, Morgan, S. and MacGregor, G. A. A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p 13.3. Clinical Genetics, 44: 173-176 1994
Stenvinkel P, Saggar-Malik A.K. Alvestrand A. Renal haemodynamics and tubular sodium handling following volume expansion with sodium chloride (NaCl) and glucose in healthy humans. Scand J Lab Invest 52: 837-846, 1992
Stenvinkel P, Saggar-Malik AK, Wahrenberg H, Diczfalusy U, Bolinder J, Alvestrand A.Impaired intrarenal dopamine production following intravenous sodium chloride infusion in insulin-dependent (Type 1) diabetes mellitus. Diabetologia, 34, 114-118, 1991
Cundy TF Butler J, Pope RM, Saggar-Malik AK, Wheeler MJ, Williams R Amenorrhoea in Women with Non alcoholic Chronic Liver Disease. Gut 32, 2 p 202-206. 1991


Book Chapters

AuthorSubjectPublication & Date
Saggar A. Inherited Renal diseases Horizons in Medicine 17. Updates in major medical clinical advances. Ed Dorian Haskard. Royal College of Physicians. London, 2005
Saggar Malik AK, Somlo S. Autosomal dominant polycystic kidney disease The Genetics of Renal Disease. Eds. Flinter F, Maher E, Saggar-Malik AK. Oxford University Press, Oxford.2003.
Saggar Malik AK. Cystic kidney disease The Genetics of Renal Disease. Eds. Flinter F, Maher E, Saggar-Malik AK. Oxford University Press, Oxford. 2003
Saggar Malik AK. Gene therapy in renal diseaseThe Genetics of Renal Disease. Eds. Flinter F, Maher E, Saggar-Malik AK. Oxford University Press, Oxford. 2003.
Saggar-Malik AK and Jeffery S. Gene structure and regulation and laboratory techniquesInherited disorders of the kidney, Ed Morgan SA and Gruenfeld JP. Oxford University Press, Oxford. 1998
Saggar-Malik AK, Pettitt K. Autosomal dominant polycystic kidney diseaseAn information booklet for patients and their families. St George's Medical School, London. 1996
Saggar-Malik, AK. Cardiovascular risk factors in the ethnic minorities(Bilingual Booklet). Wandsworth Borough Council, London, 1993
Saggar-Malik, AK, Cappuccio, FP. Potassium supplements and potassium-sparing diureticsA review and guide to appropriate use. Drugs, 46, (6), 986-1008 1993


Edited Books

AuthorsTitle, publication and date
Flinter F, Maher E , Saggar-Malik AK. The Genetics of Renal Disease, Oxford monographs on medical genetics, 48. Oxford University Press, Oxford.2003.