(Q37783982)

23 August 2017

title

Imprinting on chromosome 20: tissue-specific imprinting and imprinting mutations in the GNAS locus (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.30271

23 August 2017

Imprinting on chromosome 20: Tissue‐specific imprinting and imprinting mutations in theGNASlocus (English)

1 reference

3 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20803660

3 July 2024

1

Gavin Kelsey

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20803660

3 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20803660

3 July 2024

publication date

1 August 2010

1 reference

23 August 2017

15 August 2010

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20803660

full work available at URL

3 July 2024

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.c.30271

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.30271

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.30271

3 July 2024

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.30271

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

3 July 2024

published in

1 reference

23 August 2017

volume

154C

1 reference

23 August 2017

issue

3

1 reference

23 August 2017

page(s)

377-386

1 reference

Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS

23 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.C.30271

XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex

21 January 2018

https://api.crossref.org/works/10.1002/AJMG.C.30271

1

1 reference

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

2

1 reference

Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha).

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

3

1 reference

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

4

1 reference

Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

5

1 reference

Receptor-mediated adenylyl cyclase activation through XLalpha(s), the extra-large variant of the stimulatory G protein alpha-subunit.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

6

1 reference

Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

8

1 reference

Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

9

1 reference

Parental origin of transcription from the human GNAS1 gene.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

10

1 reference

Differential activity of maternally and paternally derived chromosome regions in mice

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

11

1 reference

Alternative Gnas gene products have opposite effects on glucose and lipid metabolism.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

12

1 reference

Increased glucose tolerance and reduced adiposity in the absence of fasting hypoglycemia in mice with liver-specific Gs alpha deficiency

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

13

1 reference

Central nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

14

1 reference

G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesis

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

15

1 reference

Transcription is required for establishment of germline methylation marks at imprinted genes

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

16

1 reference

Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

17

1 reference

Imprinting in Albright's hereditary osteodystrophy

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

18

1 reference

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

19

1 reference

The neuronatin gene resides in a "micro-imprinted" domain on human chromosome 20q11.2.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

20

1 reference

Functional polymorphisms in the paternally expressed XLalphas and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

21

1 reference

Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

22

1 reference

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

23

1 reference

Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

24

1 reference

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

25

1 reference

A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

26

1 reference

How imprinting is relevant to human disease

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

27

1 reference

An imprinted antisense transcript at the human GNAS1 locus

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

28

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

29

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

30

1 reference

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

31

1 reference

A comprehensive transcript map of the mouse Gnas imprinted complex

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

32

1 reference

Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

33

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

34

1 reference

Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

35

1 reference

The function of non-coding RNAs in genomic imprinting

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

36

1 reference

Imprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignancies

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

37

1 reference

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

38

1 reference

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

39

1 reference

A GNAS1 imprinting defect in pseudohypoparathyroidism type IB

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

40

1 reference

Identification of a methylation imprint mark within the mouse Gnas locus

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

41

1 reference

The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

42

1 reference

Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

43

1 reference

Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

44

1 reference

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

45

1 reference

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

46

1 reference

Mutations in the Gs alpha gene causing hormone resistance

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

47

1 reference

The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

48

1 reference

Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

49

1 reference

Parental origin of Gsalpha mutations in the McCune-Albright syndrome and in isolated endocrine tumors

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

50

1 reference

Biallelic expression of the Gsalpha gene in human bone and adipose tissue.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

51

1 reference

Genetic Analysis and Evaluation of Resistance to Thyrotropin and Growth Hormone-Releasing Hormone in Pseudohypoparathyroidism Type Ib

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

52

1 reference

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

53

1 reference

A maternal epimutation of GNAS leads to Albright osteodystrophy and parathyroid hormone resistance.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

54

1 reference

Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

55

1 reference

Oscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

56

1 reference

Characterization of the extra-large G protein alpha-subunit XLalphas. I. Tissue distribution and subcellular localization

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

57

1 reference

A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

58

1 reference

Imprinting control within the compact Gnas locus.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

59

1 reference

The imprinted signaling protein XL alpha s is required for postnatal adaptation to feeding.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

60

1 reference

Imprinted Nesp55 influences behavioral reactivity to novel environments

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

61

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

62

1 reference

Tissue-specific imprinting of the G protein Gsalpha is associated with tissue-specific differences in histone methylation

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

63

1 reference

Transcript- and tissue-specific imprinting of a tumour suppressor gene

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

64

1 reference

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

65

1 reference

Selective deficiency of Gsalpha and the possible role of alternative gene products of GNAS in Albright hereditary osteodystrophy and pseudohypoparathyroidism type Ia.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

66

1 reference

Molecular diagnosis and clinical characterization of pseudohypoparathyroidism type-Ib in a patient with mild Albright's hereditary osteodystrophy-like features, epileptic seizures, and defective renal handling of uric acid

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

67

1 reference

Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

68

1 reference

Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

70

1 reference

A cis-acting control region is required exclusively for the tissue-specific imprinting of Gnas

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

71

1 reference

Identification of an imprinting control region affecting the expression of all transcripts in the Gnas cluster

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

72

1 reference

Albright's hereditary osteodystrophy

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

73

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

74

1 reference

A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

75

1 reference

Regulation of alternative polyadenylation by genomic imprinting

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

76

1 reference

The alternative stimulatory G protein alpha-subunit XLalphas is a critical regulator of energy and glucose metabolism and sympathetic nerve activity in adult mice

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

77

1 reference

Beta cell-specific deficiency of the stimulatory G protein alpha-subunit Gsalpha leads to reduced beta cell mass and insulin-deficient diabetes.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

78

1 reference

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

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

79

1 reference

Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b.

3 July 2024

https://api.crossref.org/works/10.1002/AJMG.C.30271

80

1 reference

3 July 2024

Identifiers

DOI

10.1002/AJMG.C.30271

1 reference

23 August 2017

1 reference