Literature DB >> 8383205

Imprinting in Albright's hereditary osteodystrophy.

S J Davies1, H E Hughes.   

Abstract

Review of published reports of Albright's hereditary osteodystrophy (AHO) involving two or more generations shows a marked excess of maternal transmission. Full expression of the gene (AHO + hormone resistance, pseudohypoparathyroidism) occurs in maternally transmitted cases and partial expression (AHO alone) when the gene is inherited from the father, suggesting the involvement of genomic imprinting in the expression of this disorder.

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Year:  1993        PMID： 8383205      PMCID： PMC1016262          DOI： 10.1136/jmg.30.2.101

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  49 in total

1.  Pseudo-pseudohypoparathyroidism: three cases in one family.

Authors:  S S TANZ
Journal:  Am J Med Sci       Date:  1960-04       Impact factor: 2.378

2.  Pseudohypoparathyroidism with hypothyroidism. A case report and review of literature.

Authors:  M L COHEN; G N DONNELL
Journal:  J Pediatr       Date:  1960-03       Impact factor: 4.406

3.  Familial growth hormone releasing factor deficiency in pseudopseudohypoparathyroidism.

Authors:  H F Stirling; D G Barr; C J Kelnar
Journal:  Arch Dis Child       Date:  1991-04       Impact factor: 3.791

4.  Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.

Authors:  J B MANN; S ALTERMAN; A G HILLS
Journal:  Ann Intern Med       Date:  1962-02       Impact factor: 25.391

5.  Pseudohypoparathyroid tetany.

Authors:  H BAKWIN; W F GORMAN; S R ZIEGRA
Journal:  J Pediatr       Date:  1950-05       Impact factor: 4.406

6.  Pseudohypoparathyroidism. Variable manifestations within a family.

Authors:  A J Williams; J L Wilkinson; W H Taylor
Journal:  Arch Dis Child       Date:  1977-10       Impact factor: 3.791

7.  Coexistent pseudohypoparathyroidism and D brachydactyly in a family.

Authors:  N Graudal; N Milman; L S Nielsen; E Niebuhr; J Bonde
Journal:  Clin Genet       Date:  1986-12       Impact factor: 4.438

8.  Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds.

Authors:  M A Levine; T S Jap; R S Mauseth; R W Downs; A M Spiegel
Journal:  J Clin Endocrinol Metab       Date:  1986-03       Impact factor: 5.958

9.  Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.

Authors:  L S Weinstein; P V Gejman; E Friedman; T Kadowaki; R M Collins; E S Gershon; A M Spiegel
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

10.  Effects of dibutyryl cyclic adenosine 3',5'-monophosphate and parathyroid extract on calcium and phosphorus metabolism in hypoparathyroidism and pseudohypoparathyroidism.

Authors:  N H Bell; S Avery; T Sinha; C M Clark; D O Allen; C Johnston
Journal:  J Clin Invest       Date:  1972-04       Impact factor: 14.808
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  74 in total

Review 1.  Imprints of disease at GNAS1.

Authors:  M Lalande
Journal:  J Clin Invest       Date:  2001-04       Impact factor: 14.808

Review 2.  Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

Authors:  M A Levine
Journal:  Rev Endocr Metab Disord       Date:  2000-11       Impact factor: 6.514

Review 3.  Genetics of endocrine and metabolic disorders: parathyroid.

Authors:  R V Thakker
Journal:  Rev Endocr Metab Disord       Date:  2004-03       Impact factor: 6.514

4.  Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.

Authors:  Serap Turan; Eduardo Fernandez-Rebollo; Cumhur Aydin; Teuta Zoto; Monica Reyes; George Bounoutas; Min Chen; Lee S Weinstein; Reinhold G Erben; Vladimir Marshansky; Murat Bastepe
Journal:  J Bone Miner Res       Date:  2014-03       Impact factor: 6.741

5.  Albright's hereditary osteodystrophy.

Authors:  Zaw Min; Sunita Sharma; Luis Rivera-Ramirez
Journal:  Intern Emerg Med       Date:  2013-10-18       Impact factor: 3.397

Review 6.  The role of GNAS and other imprinted genes in the development of obesity.

Authors:  L S Weinstein; T Xie; A Qasem; J Wang; M Chen
Journal:  Int J Obes (Lond)       Date:  2009-10-20       Impact factor: 5.095

7.  Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.

Authors:  B E Hayward; V Moran; L Strain; D T Bonthron
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

8.  Inherited disorders of calcium and phosphate metabolism.

Authors:  Jyothsna Gattineni
Journal:  Curr Opin Pediatr       Date:  2014-04       Impact factor: 2.856

9.  Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.

Authors:  Eduardo Fernandez-Rebollo; Beatriz García-Cuartero; Intza Garin; Cristina Largo; Francisco Martínez; Concepcion Garcia-Lacalle; Luis Castaño; Murat Bastepe; Guiomar Pérez de Nanclares
Journal:  J Clin Endocrinol Metab       Date:  2009-12-11       Impact factor: 5.958

10.  The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

Authors:  B E Hayward; M Kamiya; L Strain; V Moran; R Campbell; Y Hayashizaki; D T Bonthron
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-18       Impact factor: 11.205
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