M L Dattani

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint The molecular basis for developmental disorders of the pituitary gland in man
    M T Dattani
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK
    Clin Genet 57:337-46. 2000
  2. pmc SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours
    Kyriaki 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
  3. pmc Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia
    Mark J McCabe
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London UCL Institute of Child Health, London WC1N 1EH, United Kingdom
    J Clin Endocrinol Metab 98:E547-57. 2013
  4. ncbi request reprint HESX1: a novel gene implicated in a familial form of septo-optic dysplasia
    M T Dattani
    London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, UK
    Acta Paediatr Suppl 88:49-54. 1999
  5. doi request reprint Effect of growth hormone deficiency on brain structure, motor function and cognition
    Emma 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
  6. ncbi request reprint Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene
    M T Dattani
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 16:1207-9. 2003
  7. ncbi request reprint DNA testing in patients with GH deficiency at the time of transition
    M T Dattani
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health and Great Ormond Street Children s Hospital, London, UK
    Growth Horm IGF Res 13:S122-9. 2003
  8. ncbi request reprint Structural hypothalamic defects
    Mehul Dattani
    Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 15:1423-4. 2002
  9. ncbi request reprint HESX1 and Septo-Optic Dysplasia
    Mehul Tulsidas Dattani
    London Centre for Paediatric Endocrinology, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Rev Endocr Metab Disord 3:289-300. 2002
  10. ncbi request reprint GH deficiency might be associated with normal height in PROP1 deficiency
    Mehul T Dattani
    Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London WC1N 1EH
    Clin Endocrinol (Oxf) 57:157-8. 2002

Collaborators

Detail Information

Publications47

  1. ncbi request reprint The molecular basis for developmental disorders of the pituitary gland in man
    M T Dattani
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK
    Clin Genet 57:337-46. 2000
    ..Mutations in the novel homeobox gene Hesx1/HESX1 are associated with the highly variable phenotype of septo-optic dysplasia in mouse and man. The unravelling of this complex developmental cascade is just commencing...
  2. pmc SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours
    Kyriaki 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...
  3. pmc Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia
    Mark J McCabe
    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College London UCL Institute of Child Health, London WC1N 1EH, United Kingdom
    J Clin Endocrinol Metab 98:E547-57. 2013
    ..Recent data suggest overlapping phenotypes/genotypes between KS and congenital hypopituitarism (CH), including septo-optic dysplasia (SOD)...
  4. ncbi request reprint HESX1: a novel gene implicated in a familial form of septo-optic dysplasia
    M T Dattani
    London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, UK
    Acta Paediatr Suppl 88:49-54. 1999
    ..Hence, a vital role for Hesx1/HESX1 in forebrain and pituitary development in mice and humans is suggested...
  5. doi request reprint Effect of growth hormone deficiency on brain structure, motor function and cognition
    Emma 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
    ....
  6. ncbi request reprint Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene
    M T Dattani
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 16:1207-9. 2003
  7. ncbi request reprint DNA testing in patients with GH deficiency at the time of transition
    M T Dattani
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health and Great Ormond Street Children s Hospital, London, UK
    Growth Horm IGF Res 13:S122-9. 2003
    ..Therefore, for these reasons it is recommended that all patients with GHD should undergo testing for genetic mutations within the genes associated with IGHD, CPHD and SOD...
  8. ncbi request reprint Structural hypothalamic defects
    Mehul Dattani
    Institute of Child Health, London, UK
    J Pediatr Endocrinol Metab 15:1423-4. 2002
  9. ncbi request reprint HESX1 and Septo-Optic Dysplasia
    Mehul Tulsidas Dattani
    London Centre for Paediatric Endocrinology, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Rev Endocr Metab Disord 3:289-300. 2002
  10. ncbi request reprint GH deficiency might be associated with normal height in PROP1 deficiency
    Mehul T Dattani
    Biochemistry, Endocrinology, and Metabolism Unit, Institute of Child Health, London WC1N 1EH
    Clin Endocrinol (Oxf) 57:157-8. 2002
  11. ncbi request reprint Molecular genetics of septo-optic dysplasia
    M L Dattani
    London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, London, UK
    Horm Res 53:26-33. 2000
    ..Our studies indicate a vital role for Hesx1/HESX1 in forebrain and pituitary development in mouse and man, and hence in some cases of SOD...
  12. doi request reprint The candidate gene approach to the diagnosis of monogenic disorders
    Mehul 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...
  13. doi request reprint Cystic fibrosis-related diabetes in childhood
    Stephen 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...
  14. pmc ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland
    Bruno 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...
  15. pmc Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal
    Bruno 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...
  16. doi request reprint Genetic forms of hypopituitarism and their manifestation in the neonatal period
    Kyriaki 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...
  17. pmc Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
    Kathryn 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...
  18. ncbi request reprint Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency
    James 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...
  19. ncbi request reprint Use of growth hormone in children
    Peter 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint Novel insights into the aetiology and pathogenesis of hypopituitarism
    Mehul 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...
  22. ncbi request reprint 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...
  23. doi request reprint Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond
    Mark 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...
  24. pmc Genetic regulation of pituitary gland development in human and mouse
    Daniel 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...
  25. doi request reprint Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism
    Ameeta 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
    ....
  26. doi request reprint Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations
    Kyriaki 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...
  27. ncbi request reprint Hypopituitarism oddities: congenital causes
    Daniel 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...
  28. ncbi request reprint The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism
    Daniel Kelberman
    Biochemistry, Endocrinology and Metabolism Unit, Institute for Child Health, London, UK
    Ann Med 38:560-77. 2006
    ....
  29. ncbi request reprint HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism
    David 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...
  30. pmc SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development
    Daniel 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...
  31. ncbi request reprint Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency
    James 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
    ..Studies have suggested that dominant mutant GH forms prevent the secretion of wild-type GH, resulting in eventual cell death; surprisingly, some patients with these GH mutations develop other hormonal deficiencies (ACTH, TSH)...
  32. pmc Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
    Daniel 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...
  33. ncbi request reprint The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model
    Ameeta Mehta
    London Centre for Paediatric Endocrinology and Metabolism, Institute of Child Health, University College London, London, UK
    Clin Endocrinol (Oxf) 63:223-31. 2005
    ..We have assessed the effects of CGHD on birth size and early postnatal growth, and the further impact of the presence of additional pituitary hormone deficiencies and midline brain defects on these parameters...
  34. pmc Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
    Lin 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...
  35. pmc Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism
    Ezat 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...
  36. doi request reprint 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 callosum
    Raja 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...
  37. doi request reprint Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency
    Kyriaki 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...
  38. doi request reprint Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism
    Kyriaki 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...
  39. doi request reprint The role of SOX proteins in normal pituitary development
    Kyriaki 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...
  40. doi request reprint Congenital hypopituitarism: clinical, molecular and neuroradiological correlates
    Ameeta 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...
  41. ncbi request reprint An update on the biochemical diagnosis of congenital ACTH insufficiency
    Ameeta 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
    ..The standard Synacthen test (SST) is safe and easy to perform in infancy, but its performance has not been well evaluated in infants and children with ACTH insufficiency...
  42. pmc Variable phenotypes associated with aromatase (CYP19) insufficiency in humans
    Lin 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...
  43. ncbi request reprint Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report
    Edna F Roche
    Centre for Human Growth and Maturation, London Centre for Paediatric Endocrinology, University College London, UK
    Clin Endocrinol (Oxf) 58:589-96. 2003
    ..The latter along with the increased tendency towards obesity raises questions whether other cardiovascular risk factors are altered in CAH...
  44. ncbi request reprint Genetics of septo-optic dysplasia
    Daniel Kelberman
    Developmental Endocrine Research Group, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Pituitary 10:393-407. 2007
    ..Further study of these critical factors may shed light on the aetiology of this complex disorder...
  45. ncbi request reprint Hypothalamic and pituitary development: novel insights into the aetiology
    Daniel Kelberman
    Developmental Endocrine Research Group, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    Eur J Endocrinol 157:S3-14. 2007
    ....
  46. doi request reprint Septo-optic dysplasia - novel insights into the aetiology
    Daniel Kelberman
    Institute of Child Health, London, UK
    Horm Res 69:257-65. 2008
    ..We have reviewed recent literature selecting relevant references based on the keywords HESX1, SOX2, SOX3, Septo-optic dysplasia, genetics and pituitary development...