Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

PubWeight™: 0.93‹?›

🔗 View Article (PMID 10634415)

Published in J Clin Endocrinol Metab on January 01, 2000

Authors

F Pernasetti1, S P Toledo, V V Vasilyev, C Y Hayashida, J D Cogan, C Ferrari, D M Lourenço, P L Mellon

Author Affiliations

1: Department of Reproductive Medicine, University of California, San Diego, La Jolla 92093-0674, USA. fpernase@ucsd.edu

Articles citing this

Genetic regulation of pituitary gland development in human and mouse. Endocr Rev (2009) 2.02

A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. Clin Endocrinol (Oxf) (2002) 1.54

Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. Mol Cell Endocrinol (2009) 1.25

Significant quantitative and qualitative transition in pituitary stem /  progenitor cells occurs during the postnatal development of the rat anterior pituitary. J Neuroendocrinol (2011) 0.95

Pituitary gland development and disease: from stem cell to hormone production. Curr Top Dev Biol (2013) 0.88

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism. PLoS One (2012) 0.86

Growth hormone response to growth hormone-releasing peptide-2 in growth hormone-deficient little mice. Clinics (Sao Paulo) (2012) 0.82

Notch signaling in postnatal pituitary expansion: proliferation, progenitors, and cell specification. Mol Endocrinol (2014) 0.82

Aged PROP1 deficient dwarf mice maintain ACTH production. PLoS One (2011) 0.78

Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencing. Horm Res Paediatr (2013) 0.77

Sox21 deletion in mice causes postnatal growth deficiency without physiological disruption of hypothalamic-pituitary endocrine axes. Mol Cell Endocrinol (2016) 0.75

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. J Hum Genet (2017) 0.75

Articles by these authors

Hepatitis B virus immunopathogenesis. Annu Rev Immunol (1995) 8.62

Natural variants of cytotoxic epitopes are T-cell receptor antagonists for antiviral cytotoxic T cells. Nature (1994) 4.42

Different clinical behaviors of acute hepatitis C virus infection are associated with different vigor of the anti-viral cell-mediated immune response. J Clin Invest (1996) 4.10

The role of virus-specific CD8(+) cells in liver damage and viral control during persistent hepatitis B virus infection. J Exp Med (2000) 3.78

The hepatitis B virus persists for decades after patients' recovery from acute viral hepatitis despite active maintenance of a cytotoxic T-lymphocyte response. Nat Med (1996) 3.60

CD8+ T lymphocyte responses are induced during acute hepatitis C virus infection but are not sustained. Eur J Immunol (2000) 3.36

Lamivudine treatment can restore T cell responsiveness in chronic hepatitis B. J Clin Invest (1998) 2.97

Cytotoxic T lymphocytes recognize an HLA-A2-restricted epitope within the hepatitis B virus nucleocapsid antigen. J Exp Med (1991) 2.88

HLA class I-restricted human cytotoxic T cells recognize endogenously synthesized hepatitis B virus nucleocapsid antigen. Proc Natl Acad Sci U S A (1991) 2.83

Tissue-specific enhancer of the human glycoprotein hormone alpha-subunit gene: dependence on cyclic AMP-inducible elements. Mol Cell Biol (1987) 2.80

Negative regulation by glucocorticoids through interference with a cAMP responsive enhancer. Science (1988) 2.78

Direct ex vivo analysis of hepatitis B virus-specific CD8(+) T cells associated with the control of infection. Gastroenterology (1999) 2.62

Different cytokine profiles of intraphepatic T cells in chronic hepatitis B and hepatitis C virus infections. Gastroenterology (1997) 2.61

HLA-A31- and HLA-Aw68-restricted cytotoxic T cell responses to a single hepatitis B virus nucleocapsid epitope during acute viral hepatitis. J Exp Med (1993) 2.49

Induction of proto-oncogene fos transcription through the adenylate cyclase pathway: characterization of a cAMP-responsive element. Genes Dev (1988) 2.38

Cytotoxic T lymphocyte response to a wild type hepatitis B virus epitope in patients chronically infected by variant viruses carrying substitutions within the epitope. J Exp Med (1994) 2.18

Cell lines of the pituitary gonadotrope lineage derived by targeted oncogenesis in transgenic mice. Mol Endocrinol (1990) 2.05

Lamivudine treatment can overcome cytotoxic T-cell hyporesponsiveness in chronic hepatitis B: new perspectives for immune therapy. Hepatology (2001) 1.99

Cloning by functional complementation of a mouse cDNA encoding a homologue of CDC25, a Saccharomyces cerevisiae RAS activator. EMBO J (1992) 1.96

Long-lasting memory T cell responses following self-limited acute hepatitis B. J Clin Invest (1996) 1.96

Hepatitis B virus (HBV)-specific cytotoxic T-cell response in humans: production of target cells by stable expression of HBV-encoded proteins in immortalized human B-cell lines. J Virol (1992) 1.94

Immortalization of pituitary cells at discrete stages of development by directed oncogenesis in transgenic mice. Development (1996) 1.87

Intrahepatic, nucleocapsid antigen-specific T cells in chronic active hepatitis B. J Immunol (1987) 1.85

Retinoblastoma in transgenic mice. Nature (1990) 1.84

Cell-specific transcriptional regulation of follicle-stimulating hormone-beta by activin and gonadotropin-releasing hormone in the LbetaT2 pituitary gonadotrope cell model. Endocrinology (2001) 1.82

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females. Eur Respir J (2009) 1.68

Neuroprotective and neurodegenerative effects of the chronic expression of tumor necrosis factor α in the nigrostriatal dopaminergic circuit of adult mice. Exp Neurol (2010) 1.60

Predominant T-helper 1 cytokine profile of hepatitis B virus nucleocapsid-specific T cells in acute self-limited hepatitis B. Hepatology (1997) 1.58

Hepatitis B virus structure and biology. Microb Pathog (1989) 1.55

Congenital choledochal cyst: video-guided laparoscopic treatment. Surg Laparosc Endosc (1995) 1.54

Hepatitis B virus immunopathology. Springer Semin Immunopathol (1995) 1.52

Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet (1998) 1.51

Early kinetics of innate and adaptive immune responses during hepatitis B virus infection. Gut (2009) 1.49

The desmopressin stimulation test in the differential diagnosis of Cushing's syndrome. Clin Endocrinol (Oxf) (1993) 1.49

Low cord blood levels of catecholamine from a newborn of a pheochromocytoma patient. Eur J Endocrinol (1994) 1.46

Intrinsic pulsatile secretory activity of immortalized luteinizing hormone-releasing hormone-secreting neurons. Proc Natl Acad Sci U S A (1992) 1.46

IL28B polymorphisms predict reduction of HCV RNA from the first day of therapy in chronic hepatitis C. J Hepatol (2011) 1.45

Plasma thyrotropin response to thyrotropin-releasing hormone in patients with pituitary and hypothalamic disorders. J Clin Endocrinol Metab (1973) 1.44

Cardiomegaly and heart failure in a patient with prolactin-secreting pituitary tumour. Thorax (1979) 1.44

Steroid and pulsatile gonadotropin-releasing hormone (GnRH) regulation of luteinizing hormone and GnRH receptor in a novel gonadotrope cell line. Mol Endocrinol (1996) 1.44

Neutron autoradiography imaging of selective boron uptake in human metastatic tumours. Appl Radiat Isot (2008) 1.44

Survival in high-grade osteosarcoma: improvement over 21 years at a single institution. Ann Oncol (2009) 1.44

Conserved hepatitis C virus sequences are highly immunogenic for CD4(+) T cells: implications for vaccine development. Hepatology (1999) 1.39

Inactivating mutations in the LH receptor-as rare as "a hen with teeth"or as frequent as polycystic ovary syndrome? Fertil Steril (2000) 1.38

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet (2000) 1.38

GATA-binding proteins regulate the human gonadotropin alpha-subunit gene in the placenta and pituitary gland. Mol Cell Biol (1994) 1.37

Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin. J Clin Endocrinol Metab (1979) 1.36

Risk factors and outcome among a large patient cohort with community-acquired acute hepatitis C in Italy. Clin Infect Dis (2006) 1.34

GHF-1-promoter-targeted immortalization of a somatotropic progenitor cell results in dwarfism in transgenic mice. Genes Dev (1993) 1.30

The L beta T2 clonal gonadotrope: a model for single cell studies of endocrine cell secretion. Endocrinology (1996) 1.27

Functional characterization of cloned intrahepatic, hepatitis B virus nucleoprotein-specific helper T cell lines. J Immunol (1987) 1.25

The POU homeodomain transcription factor Oct-1 is essential for activity of the gonadotropin-releasing hormone neuron-specific enhancer. Mol Cell Biol (1995) 1.24

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene. J Clin Endocrinol Metab (1999) 1.23

[Digital and palmar dermatoglyphics in normal patients of the population of São Paulo]. Rev Paul Med (1969) 1.20

Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis. Am J Med Genet (1978) 1.19

Morphological characterization of immortalized hypothalamic neurons synthesizing luteinizing hormone-releasing hormone. Endocrinology (1991) 1.18

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet (1995) 1.17

Metabolism of pro-luteinizing hormone-releasing hormone in immortalized hypothalamic neurons. Endocrinology (1991) 1.17

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. Nat Genet (1995) 1.17

The orphan nuclear receptor, steroidogenic factor-1, regulates the glycoprotein hormone alpha-subunit gene in pituitary gonadotropes. Mol Endocrinol (1994) 1.16

A cAMP response element in the beta 2-adrenergic receptor gene confers transcriptional autoregulation by cAMP. J Biol Chem (1990) 1.16

Neuron-specific expression of the rat gonadotropin-releasing hormone gene is conferred by interactions of a defined promoter element with the enhancer in GT1-7 cells. Mol Endocrinol (2000) 1.16

GATA factors are essential for activity of the neuron-specific enhancer of the gonadotropin-releasing hormone gene. Mol Cell Biol (1996) 1.15

Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement. J Clin Endocrinol Metab (1999) 1.15

Selective sensitization of peripheral blood T lymphocytes to hepatitis B core antigen in patients with chronic active hepatitis type B. Clin Exp Immunol (1986) 1.14

Cloning and functional expression of a mouse gonadotropin-releasing hormone receptor. Mol Endocrinol (1992) 1.14

Characterization of ligurian melanoma families and risk of occurrence of other neoplasia. Int J Cancer (1999) 1.13

A neuron-specific enhancer targets expression of the gonadotropin-releasing hormone gene to hypothalamic neurosecretory neurons. Mol Endocrinol (1995) 1.13

The Otx2 homeoprotein regulates expression from the gonadotropin-releasing hormone proximal promoter. Mol Endocrinol (2000) 1.12

Treatment of autonomous thyroid nodules with percutaneous ethanol injection: preliminary results. Work in progress. Radiology (1990) 1.11

Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia). Biochem Med (1973) 1.10

Functional characterization of cAMP-binding mutations in type I protein kinase. J Biol Chem (1989) 1.08

Greenland snow evidence of large scale atmospheric contamination for platinum, palladium, and rhodium. Environ Sci Technol (2001) 1.08

A radiological and genetic investigation of acheiropody in a kindred including six cases. J Genet Hum (1969) 1.07

Intracellular responses to gonadotropin-releasing hormone in a clonal cell line of the gonadotrope lineage. Mol Endocrinol (1991) 1.06

Amplification of CDK4, MDM2, SAS and GLI genes in leiomyosarcoma, alveolar and embryonal rhabdomyosarcoma. Histol Histopathol (2004) 1.05

Titan's atmospheric temperatures, winds, and composition. Science (2005) 1.05

High plasma thyrotrophin levels in two patients with pituitary tumour. Acta Endocrinol (Copenh) (1972) 1.05

Expression of a retinoblastoma transgene results in dwarf mice. Genes Dev (1993) 1.05

The class I-restricted cytotoxic T lymphocyte response to predetermined epitopes in the hepatitis B and C viruses. Curr Top Microbiol Immunol (1994) 1.04

Molecular features of the hepatitis B virus nucleocapsid T-cell epitope 18-27: interaction with HLA and T-cell receptor. Hepatology (1997) 1.04

Epitope specificity of Th0/Th2 CD4+ T-lymphocyte clones induced by vaccination with rHBsAg vaccine. Gastroenterology (1997) 1.04

An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female. J Clin Endocrinol Metab (1996) 1.04

Further data on acheiropody. J Genet Hum (1972) 1.03

Transcription factors Oct-1 and C/EBPbeta (CCAAT/enhancer-binding protein-beta) are involved in the glutamate/nitric oxide/cyclic-guanosine 5'-monophosphate-mediated repression of mediated repression of gonadotropin-releasing hormone gene expression. Mol Endocrinol (2000) 1.02

Computed tomography of pulmonary metastases from osteosarcoma: the less poor technique. A study of 51 patients with histological correlation. Ann Oncol (2001) 1.02

New insights suggesting a possible role of a heat shock protein 70-kD family-related protein in antigen processing/presentation phenomenon in humans. Blood (1993) 1.01

Reduced plasma thyrotropin response to thyrotropin releasing hormone after dexamethasone administration in normal subjects. Horm Metab Res (1973) 1.00

The Ras Guanine nucleotide Exchange Factor CDC25Mm is present at the synaptic junction. Exp Cell Res (1997) 1.00

The thyrotropin beta-subunit gene is repressed by thyroid hormone in a novel thyrotrope cell line, mouse T alphaT1 cells. Endocrinology (1998) 1.00

Oct-1 binds promoter elements required for transcription of the GnRH gene. Mol Endocrinol (1998) 0.99

Identification of immunodominant hepatitis C virus (HCV)-specific cytotoxic T-cell epitopes by stimulation with endogenously synthesized HCV antigens. Hepatology (2001) 0.99

A new acrylic resin formulation: a useful tool for histological, ultrastructural, and immunocytochemical investigations. J Histochem Cytochem (1992) 0.99

Regulation of gonadotropin-releasing hormone transcription by protein kinase C is mediated by evolutionarily conserved promoter-proximal elements. Mol Endocrinol (1995) 0.98

The basic helix-loop-helix, leucine zipper transcription factor, USF (upstream stimulatory factor), is a key regulator of SF-1 (steroidogenic factor-1) gene expression in pituitary gonadotrope and steroidogenic cells. Mol Endocrinol (1998) 0.98

Does the immune response play a role in the pathogenesis of chronic liver disease? Arch Pathol Lab Med (1988) 0.97