Literature DB >> 8151649

Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: no evidence of genomic imprinting.

V Schuster, W Kress, K Kruse.   

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Year:  1994        PMID： 8151649      PMCID： PMC1049615          DOI： 10.1136/jmg.31.1.84

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


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  9 in total

1.  Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter.

Authors:  H Hedeland; K Berntorp; K Arheden; U Kristoffersson
Journal:  Clin Genet       Date:  1992-09       Impact factor: 4.438

2.  Pseudo-pseudohypoparathyroidism.

Authors:  F ALBRIGHT; A P FORBES; P H HENNEMAN
Journal:  Trans Assoc Am Physicians       Date:  1952

3.  Albright's hereditary osteodystrophy and defective G proteins.

Authors:  A M Spiegel
Journal:  N Engl J Med       Date:  1990-05-17       Impact factor: 91.245

4.  A simplified diagnostic test in hypoparathyroidism and pseudohypoparathyroidism type I with synthetic 1-38 fragment of human parathyroid hormone.

Authors:  K Kruse; U Kracht
Journal:  Eur J Pediatr       Date:  1987-07       Impact factor: 3.183

Review 5.  Imprinting in Albright's hereditary osteodystrophy.

Authors:  S J Davies; H E Hughes
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

6.  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

7.  G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.

Authors:  V V Rao; S Schnittger; I Hansmann
Journal:  Genomics       Date:  1991-05       Impact factor: 5.736

8.  Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy.

Authors:  V Schuster; T Eschenhagen; K Kruse; P Gierschik; H W Kreth
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

9.  A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.

Authors:  L S Weinstein; P V Gejman; P de Mazancourt; N American; A M Spiegel
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736
  9 in total
  8 in total

1.  A G protein-coupled, IP3/protein kinase C pathway controlling the synthesis of phosphaturic hormone FGF23.

Authors:  Qing He; Lauren T Shumate; Julia Matthias; Cumhur Aydin; Marc N Wein; Jordan M Spatz; Regina Goetz; Moosa Mohammadi; Antonius Plagge; Paola Divieti Pajevic; Murat Bastepe
Journal:  JCI Insight       Date:  2019-09-05

2.  Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

Authors:  Sarah J Rickard; Louise C Wilson
Journal:  Am J Hum Genet       Date:  2003-03-06       Impact factor: 11.025

Review 3.  GNAS Spectrum of Disorders.

Authors:  Serap Turan; Murat Bastepe
Journal:  Curr Osteoporos Rep       Date:  2015-06       Impact factor: 5.096

4.  Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Authors:  L C Wilson; M E Oude Luttikhuis; P T Clayton; W D Fraser; R C Trembath
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

5.  A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.

Authors:  M Yokoyama; K Takeda; K Iyota; T Okabayashi; K Hashimoto
Journal:  J Endocrinol Invest       Date:  1996-04       Impact factor: 4.256

6.  Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.

Authors:  Serap Turan; Susanne Thiele; Olta Tafaj; Bettina Brix; Zeynep Atay; Saygin Abali; Belma Haliloglu; Abdullah Bereket; Murat Bastepe
Journal:  Bone       Date:  2014-10-18       Impact factor: 4.398

7.  Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.

Authors:  Yan Zhu; Qing He; Cumhur Aydin; Isabelle Rubera; Michel Tauc; Min Chen; Lee S Weinstein; Vladimir Marshansky; Harald Jüppner; Murat Bastepe
Journal:  Endocrinology       Date:  2015-12-15       Impact factor: 4.736

8.  Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene.

Authors:  S Yu; D Yu; E Lee; M Eckhaus; R Lee; Z Corria; D Accili; H Westphal; L S Weinstein
Journal:  Proc Natl Acad Sci U S A       Date:  1998-07-21       Impact factor: 11.205
  8 in total

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