Research Topics
Genomes and Genes
| Mehul T DattaniSummaryAffiliation: University College London Country: UK Publications
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Detail Information
Publications
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?Mehul T Dattani
Biochemistry, Endocrinology and Metabolism Unit, Institute for Child Health, London, UK
Clin Endocrinol (Oxf) 63:121-30. 2005..It is, however, clear that many genes remain to be identified, and characterization of these will further elucidate the pathogenesis of these complex conditions...- The candidate gene approach to the diagnosis of monogenic disordersMehul T Dattani
Developmental Endocrinology Research Group, UCL Institute of Child Health, London, UK
Horm Res 71:14-21. 2009..Most significant, however, is the recent optimization of high-density whole-genome single-nucleotide polymorphism arrays, which provides the potential to identify many disease genes and may revolutionize the field of human genetics... - Novel insights into the aetiology and pathogenesis of hypopituitarismMehul T Dattani
Department of Paediatric Endocrinology, Institute of Child Health, London, UK
Horm Res 62:1-13. 2004..There is, however, no substitute for careful delineation of the phenotype prior to undertaking genetic studies... - Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiencyJames P G Turton
Biochemistry, Endocrinology, and Metabolism Unit and London Centre for Paediatric Endocrinology, Institute of Child Health, London, United Kingdom
J Clin Endocrinol Metab 90:4762-70. 2005..Mutations within the gene encoding the pituitary-specific transcription factor POU1F1 are associated with combined pituitary hormone deficiency (CPHD). Most of the affected individuals manifest GH, prolactin, and TSH deficiency... - The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarismDaniel Kelberman
Biochemistry, Endocrinology and Metabolism Unit, Institute for Child Health, London, UK
Ann Med 38:560-77. 2006.... - Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarismEzat Sajedi
Neural Development Unit, Institute of Child Health, University College London, London, UK
Dis Model Mech 1:241-54. 2008..Together, these results suggest that the I26T mutation yields a hypomorphic allele, whereas R160C produces a null allele and, consequently, a more severe phenotype in both mice and humans... - Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD)James P G Turton
Biochemistry, Endocrinology and Metabolism Unit, University College London, UK
Clin Endocrinol (Oxf) 63:10-8. 2005..We screened a cohort of sporadic (n = 189) and familial (n = 44) patients with hypopituitarism (153 CPHD and 80 isolated hormone deficiencies) for mutations within the coding sequence of PROP1... - SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumoursKyriaki S Alatzoglou
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK
Hum Mutat 32:1376-80. 2011..This is the first indication that SOX2 haploinsufficiency is implicated in the generation of pituitary tumors with distinct clinical characteristics, possibly mediated via its effects on the Wnt signaling pathway... - Congenital hypopituitarism: clinical, molecular and neuroradiological correlatesAmeeta Mehta
Developmental Endocrinology Research Group, Institute of Child Health and Great Ormond Street Hospital for Sick Children, University College London, London, UK
Clin Endocrinol (Oxf) 71:376-82. 2009..We aimed to relate the clinical phenotype of a large cohort (n = 170) of children with congenital hypopituitarism including septo-optic dysplasia (SOD) attending a single centre to the neuroradiological and genetic findings... - Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal functionLin Lin
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 92:991-9. 2007..Consistent with the murine phenotype, human mutations in SF1 were described initially in two 46,XY individuals with female external genitalia, Müllerian structures (uterus), and primary adrenal failure... - SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic developmentDaniel Kelberman
Developmental Endocrinology Research Unit, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London, United Kingdom
J Clin Endocrinol Metab 93:1865-73. 2008..Variable additional abnormalities include defects of the corpus callosum and hippocampus... - Genetic regulation of pituitary gland development in human and mouseDaniel Kelberman
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
Endocr Rev 30:790-829. 2009..This review attempts to describe the complexity of pituitary development in the rodent, with particular emphasis on those factors that, when mutated, are associated with hypopituitarism in humans... - Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutationsKyriaki S Alatzoglou
Developmental Endocrinology Research Group, University College London, Institute of Child Health, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 94:3959-63. 2009..There are isolated reports of patients with ACH and AN. In this series, we report clinical and biochemical data on five male patients, four with ACH and one with hypochondroplasia (HCH), who developed AN without SADDAN... - HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarismDavid E G McNay
Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 92:691-7. 2007..Mutations in the transcription factor HESX1 have previously been described in association with septooptic dysplasia (SOD) as well as isolated defects of the hypothalamic-pituitary axis... - Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarismAmeeta Mehta
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Best Pract Res Clin Endocrinol Metab 22:191-206. 2008.... - The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a modelAmeeta Mehta
London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, University College London, London, UK
Clin Endocrinol (Oxf) 63:223-31. 2005..Early growth may also be influenced by the complexity of the hypopituitary phenotype reflected by the presence of additional pituitary hormone deficiencies and midline forebrain defects... - Genetic forms of hypopituitarism and their manifestation in the neonatal periodKyriaki S Alatzoglou
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Early Hum Dev 85:705-12. 2009..Their characterization will further elucidate the pathogenesis of this complex condition and will shed light on normal pituitary development... - Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasiaLin Lin
UCL Institute of Child Health and Department of Medicine, University College London, London, UK
Clin Endocrinol (Oxf) 66:205-10. 2007.... - Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyondMark James McCabe
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK
Best Pract Res Clin Endocrinol Metab 25:115-24. 2011..This review will discuss the current knowledge about SOD. Further study of these and other novel factors may shed light on the complex aetiology of this condition... - Hypopituitarism oddities: congenital causesDaniel Kelberman
Developmental Endocrinology Research Group, Institute of Child Health, London, UK
Horm Res 68:138-44. 2007..However, there is no substitute for careful delineation of the clinical, biochemical and neuroradiological phenotype prior to undertaking genetic studies... - Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarismKathryn S Woods
London Centre for Paediatric Endocrinology, Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, University College London, London, United Kingdom
Am J Hum Genet 76:833-49. 2005..We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR... - Mutation in the TBCE gene is associated with hypoparathyroidism-retardation-dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosumRaja Padidela
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College of London, Great Ormond Street Hospital for Children, 30 Guilford Street, London, UK
J Clin Endocrinol Metab 94:2686-91. 2009..Homozygous mutation of the tubulin cofactor E (TBCE) gene leading to loss of four amino acids (c.155-166del12; p.del 52-55) in the TBCE protein has been associated with the syndrome... - ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal glandBruno Ferraz-de-Souza
Developmental Endocrinology Research Group, UCL Institute of Child Health, University College London, London, UK
FASEB J 25:1166-75. 2011..We have identified Ang2 as a potentially important novel target of SF-1 in the adrenal gland, indicating that regulation of angiogenesis might be an important additional mechanism by which SF-1 exerts its actions in the adrenal gland... - Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiencyJames P G Turton
Biochemistry, Endocrinology and Metabolism Unit and London Centre for Paediatric Endocrinology, Institute of Child Health, London, UK
Eur J Endocrinol 155:793-9. 2006..5 kDa GH causes a form of GHD that can evolve into multiple hormone deficiencies. Hence, patients diagnosed initially with IGHD type II require continued long-term clinical follow-up... - Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunctionMark J McCabe
Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 96:E1709-18. 2011..Murine data suggest a role for Fgf8 in hypothalamo-pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans is unknown... - Variable phenotypes associated with aromatase (CYP19) insufficiency in humansLin Lin
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 92:982-90. 2007..Complete aromatase deficiency has been reported in a small number of 46,XX girls with genital ambiguity and absent pubertal development, but it is unknown whether nonclassic phenotypes exist... - Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenalBruno Ferraz-de-Souza
University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 96:E663-8. 2011..Steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) is a master regulator of adrenal development and steroidogenesis. Defects in several known targets of SF-1 can cause adrenal disorders in humans... - Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarismKyriaki S Alatzoglou
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 96:E685-90. 2011..The aim of this study was to further investigate the contribution of SOX3 in the etiology of hypopituitarism and the mechanisms involved in the phenotypic variability... - The role of SOX proteins in normal pituitary developmentKyriaki S Alatzoglou
Clinical and Academic Lead in Endocrinology, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
J Endocrinol 200:245-58. 2009..The elucidation of their role is crucial for the understanding of a number of processes that range from developmental mechanisms to disease phenotypes and tumorigenesis... - Use of growth hormone in childrenPeter C Hindmarsh
Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London, London, UK
Nat Clin Pract Endocrinol Metab 2:260-8. 2006..rhGH has a good safety record, although there are current concerns about the possible long-term increased risk of colonic and lymphatic malignancy, which will require monitoring through national cancer registries... - Genetic causes and treatment of isolated growth hormone deficiency-an updateKyriaki S Alatzoglou
UCL Institute of Child Health, London, UK
Nat Rev Endocrinol 6:562-76. 2010..Advances in pharmacogenomics will also optimize the treatment of isolated growth hormone deficiency and other conditions associated with short stature, for which recombinant human growth hormone is a licensed therapy... - Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humansDaniel Kelberman
London Centre for Paediatric Endocrinology, Biochemistry, Endocrinology, Institute of Child Health, University College London, London, United Kingdom
J Clin Invest 116:2442-55. 2006..Our data show that SOX2 is necessary for the normal development and function of the hypothalamo-pituitary and reproductive axes in both humans and mice... - Effect of growth hormone deficiency on brain structure, motor function and cognitionEmma A Webb
Developmental Endocrinology Research Group, UCL Institute of Child Health and Department of Endocrinology, Great Ormond Street Hospital for Children, WC1N 1EH London, UK
Brain 135:216-27. 2012.... - An update on the biochemical diagnosis of congenital ACTH insufficiencyAmeeta Mehta
London Centre of Paediatric Endocrinology and Metabolism, Great Ormond Street Children's Hospital and the Institute of Child Health, University College London, London, UK
Clin Endocrinol (Oxf) 62:307-14. 2005.... - Cystic fibrosis-related diabetes in childhoodStephen M P O'Riordan
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, Institute of Child Health, University College London, London, UK
Horm Res Paediatr 73:15-24. 2010..Along with survival and prognosis in CFRD the current management strategies in the diagnosis, monitoring and treatment of CFRD will also be addressed... - Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD)Kyriaki S Alatzoglou
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, Guilford Street, London, WC1N 1EH, UK
Indian J Pediatr 79:99-106. 2012..There is increasing understanding that the phenotype of patients with IGHD is highly variable and sometimes even evolving, dictating the need for long term follow-up in these cases... - Septo-optic dysplasiaEmma A Webb
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London WC1N 1EH, UK
Eur J Hum Genet 18:393-7. 2010.... - GH deficiency might be associated with normal height in PROP1 deficiencyMehul T Dattani
Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London WC1N 1EH
Clin Endocrinol (Oxf) 57:157-8. 2002 - Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiencyKyriaki S Alatzoglou
Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London Institute of Child Health, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 94:3191-9. 2009..The aim of our study was to genetically characterize a cohort of patients with congenital IGHD and analyze their characteristics... - Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing lossAnna Rajab
Genetics Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman
Hum Mol Genet 17:2150-9. 2008.... - A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interactionLuciani R Carvalho
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular, Disciplina de Endocrinologia, Hospital das Clinicas de Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
J Clin Invest 112:1192-201. 2003.... - Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiencyBarbara Räz
University Children s Hospital, Pediatric Endocrinology, Diabetology, and Metabolism, University of Bern, CH 3010 Bern, Switzerland
J Clin Endocrinol Metab 93:974-80. 2008..CONTROLS, PATIENTS, SETTING: A total of 181 subjects (peak stimulated GH<or=2 ng/ml) were studied. In addition, GHR genotype frequency was compared with a healthy adult control group... - Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptorI Sadaf Farooqi
Cambridge Institute for Medical Research, University Department of Clinical Biochemistry, Addenbrooke s Hospital, Cambridge, United Kingdom
N Engl J Med 356:237-47. 2007..A single family has been described in which obesity results from a mutation in the leptin-receptor gene (LEPR), but the prevalence of such mutations in severe, early-onset obesity has not been systematically examined... - Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiencyRobert S Jackson
Chemical Pathology Department, East Surrey Hospital, Surrey, United Kingdom
J Clin Invest 112:1550-60. 2003.... - Exon splice enhancer mutation (GH-E32A) causes autosomal dominant growth hormone deficiencyVibor Petkovic
Department of Pediatric Endocrinology, Diabetology, and Metabolism, Inselspital, University Children s Hospital, CH 3010 Bern, Switzerland
J Clin Endocrinol Metab 92:4427-35. 2007..Disruption analysis of a (GAA) (n) ESE motif within exon 3 by introducing single-base mutations has shown that single nucleotide mutations within ESE1 affect pre-mRNA splicing... - Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary reportEdna F Roche
Centre for Human Growth and Maturation, London Centre for Paediatric Endocrinology, University College London, UK
Clin Endocrinol (Oxf) 58:589-96. 2003..These abnormalities are associated with a raised BMI, particularly in females. Regular measurement and plotting of blood pressure should be part of the management of children with classical CAH... - A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermiaLin Lin
Institute of Child Health and Department of Medicine, University College London, UK
J Clin Endocrinol Metab 91:5117-21. 2006....