(Q36321841)

English

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

pseudohypoparathyroidism type IB

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based on heuristic

inferred from title

13

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13 August 2017

Harald Jüppner

1

object named as

H Jüppner

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Europe PubMed Central

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13 August 2017

author name string

E Schipani

2

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Europe PubMed Central

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13 August 2017

M Bastepe

3

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Europe PubMed Central

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13 August 2017

D E Cole

4

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Europe PubMed Central

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13 August 2017

M L Lawson

5

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Europe PubMed Central

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13 August 2017

M Mannstadt

6

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

G N Hendy

7

1 reference

Europe PubMed Central

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13 August 2017

H Plotkin

8

1 reference

Europe PubMed Central

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13 August 2017

H Koshiyama

9

1 reference

Europe PubMed Central

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13 August 2017

T Koh

10

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Europe PubMed Central

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13 August 2017

J D Crawford

11

1 reference

Europe PubMed Central

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13 August 2017

B R Olsen

12

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Europe PubMed Central

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13 August 2017

language of work or name

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publication date

1 September 1998

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Europe PubMed Central

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13 August 2017

Proceedings of the National Academy of Sciences of the United States of America

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Europe PubMed Central

PMC publication ID

13 August 2017

95

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Europe PubMed Central

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13 August 2017

20

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Europe PubMed Central

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13 August 2017

11798-11803

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Assignment of the human PTH2 receptor gene (PTHR2) to chromosome 2q33 by fluorescence in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Polymorphic SSR (simple-sequence-repeat) markers for chromosome 20.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Imprinting in Albright's hereditary osteodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Role for DNA methylation in genomic imprinting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

XL alpha s is a new type of G protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

The 1993-94 Généthon human genetic linkage map

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

A case of lethal congenital dwarfism with accelerated skeletal maturation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Isolation and characterization of the human Gs alpha gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Pseudohypoparathyroidism: clinical and molecular aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Genomic imprinting: review and relevance to human diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Dinucleotide repeat polymorphism in Gs-alpha subunit gene (GNAS1) on chromosome 20.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: a single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases in

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

30 September 2017

DNA methylation and imprinting: why bother?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

29 June 2018

Expression and modulation of the parathyroid hormone (PTH)/PTH-related peptide receptor messenger ribonucleic acid in skin fibroblasts from patients with type Ib pseudohypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

29 June 2018

Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

29 June 2018

The resistance to parathyroid hormone of fibroblasts from some patients with type Ib pseudohypoparathyroidism is reversible with dexamethasone.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

29 June 2018

Imprinted expression of the Igf2r gene depends on an intronic CpG island.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

22 September 2018

Promoter-specific imprinting of the human insulin-like growth factor-II gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

22 September 2018

Genetic mapping of the Gs-alpha subunit gene (GNAS1) to the distal long arm of chromosome 20 using a polymorphism detected by denaturing gradient gel electrophoresis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=21720

22 September 2018

Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.20.11798

21 January 2018

A Homozygous Inactivating Mutation in the Parathyroid Hormone/Parathyroid Hormone-Related Peptide Receptor Causing Blomstrand Chondrodysplasia

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.20.11798

21 January 2018

Cloning and Characterization of the Promoter Regions of the Human Parathyroid Hormone (PTH)/PTH-Related Peptide Receptor Gene: Analysis of Deoxyribonucleic Acid from Normal Subjects and Patients with Pseudohypoparathyroidism Type 1b

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.20.11798

21 January 2018

Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone

1 reference

https://pubmed.ncbi.nlm.nih.gov/9751745

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9751745

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1-p24.2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9751745

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib

1 reference

https://pubmed.ncbi.nlm.nih.gov/9751745

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b

1 reference

https://pubmed.ncbi.nlm.nih.gov/9751745

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.95.20.11798

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1998PNAS...9511798J

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

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