Genetics of endocrine and metabolic disorders: parathyroid (Q35668788)

9 August 2017

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title

Genetics of endocrine and metabolic disorders: parathyroid (English)

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9 August 2017

1

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9 August 2017

1 March 2004

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Reviews in Endocrine and Metabolic Disorders

9 August 2017

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9 August 2017

5

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9 August 2017

1

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9 August 2017

37-51

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https://scigraph.springernature.com/pub.10.1023/b:remd.0000016123.21743.fe

9 August 2017

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cites work

Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study

1 reference

12 December 2020

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

1 reference

12 December 2020

Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs.

1 reference

12 December 2020

Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1 reference

12 December 2020

Frequent loss of chromosome arm 1p DNA in parathyroid adenomas

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

DiGeorge anomaly associated with 10p deletion

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12 December 2020

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

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12 December 2020

HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome

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12 December 2020

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

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12 December 2020

Pseudohypoparathyroidism: clinical and molecular aspects

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12 December 2020

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome

1 reference

12 December 2020

Positional cloning of the APECED gene

1 reference

12 December 2020

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia

1 reference

12 December 2020

Bidirectional transcriptional activity of PGK-neomycin and unexpected embryonic lethality in heterozygote chimeric knockout mice.

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12 December 2020

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

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12 December 2020

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

1 reference

12 December 2020

A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism

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12 December 2020

Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism

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12 December 2020

Familial nephrosis, nerve deafness, and hypoparathyroidism

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12 December 2020

LIM-kinase deleted in Williams syndrome.

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12 December 2020

A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors

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12 December 2020

Kenny–Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

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12 December 2020

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

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12 December 2020

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

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12 December 2020

Menin interacts directly with the homeobox-containing protein Pem

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12 December 2020

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

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12 December 2020

Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma

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12 December 2020

GATA3 haplo-insufficiency causes human HDR syndrome

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12 December 2020

Aire regulates negative selection of organ-specific T cells

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12 December 2020

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

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12 December 2020

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

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12 December 2020

Positional cloning of the gene for multiple endocrine neoplasia-type 1

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12 December 2020

Genetic basis of endocrine disease: multiple endocrine neoplasia type 2.

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12 December 2020

Genetic ablation of parathyroid glands reveals another source of parathyroid hormone

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12 December 2020

A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

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12 December 2020

Menin's interaction with glial fibrillary acidic protein and vimentin suggests a role for the intermediate filament network in regulating menin activity

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12 December 2020

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

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12 December 2020

Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia

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12 December 2020

Congenital heart disease in mice deficient for the DiGeorge syndrome region

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12 December 2020

Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein

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12 December 2020

Pseudohypohyperparathyroidism-pseudohypoparathyroidism type Ib

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12 December 2020

Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred

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12 December 2020

Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy

1 reference

12 December 2020

Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype

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12 December 2020

Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling

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12 December 2020

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

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12 December 2020

Multiple endocrine neoplasia--syndromes of the twentieth century

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12 December 2020

A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.

1 reference

12 December 2020

HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3

1 reference

12 December 2020

Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene

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12 December 2020

Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity

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12 December 2020

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

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12 December 2020

Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia

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12 December 2020

Parathyroid hormone gene analysis in autosomal hypoparathyroidism using an intragenic tetranucleotide (AAAT) n polymorphism

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12 December 2020

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

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12 December 2020

Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription

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12 December 2020

Hypoparathyroidism and insulin-dependent diabetes mellitus in a patient with Kearns-Sayre syndrome harbouring a mitochondrial DNA deletion.

1 reference

12 December 2020

A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

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12 December 2020

XL alpha s is a new type of G protein

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12 December 2020

Frequent loss of heterozygosity at the retinoblastoma susceptibility gene (RB) locus in aggressive pituitary tumors: evidence for a chromosome 13 tumor suppressor gene other than RB.

1 reference

12 December 2020

A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism

1 reference

12 December 2020

Imprinting in Albright's hereditary osteodystrophy

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12 December 2020

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

1 reference

12 December 2020

A case of lethal congenital dwarfism with accelerated skeletal maturation

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12 December 2020

Ocular Findings in Kenny's Syndrome

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12 December 2020

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

1 reference

12 December 2020

Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis

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12 December 2020

Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1

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12 December 2020

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

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12 December 2020

Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13

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12 December 2020

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

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12 December 2020

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

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12 December 2020

The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation

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12 December 2020

Extracellular calcium sensing and extracellular calcium signaling

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12 December 2020

Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma

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12 December 2020

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

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12 December 2020

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies

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12 December 2020

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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12 December 2020

mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation

1 reference

12 December 2020

Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB.

1 reference

12 December 2020

Inactivation of menin, the product of the multiple endocrine neoplasia type 1 gene, inhibits the commitment of multipotential mesenchymal stem cells into the osteoblast lineage

1 reference

12 December 2020

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features

1 reference

12 December 2020

Tissue-specific carcinogenesis in transgenic mice expressing the RET proto-oncogene with a multiple endocrine neoplasia type 2A mutation.

1 reference

12 December 2020

A novel cyclin encoded by a bcl1-linked candidate oncogene

1 reference

12 December 2020

A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia

1 reference

12 December 2020

A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia

1 reference

12 December 2020

Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients

1 reference

12 December 2020

10.1023/B:REMD.0000016123.21743.FE

Identifiers

DOI

1 reference

PubMed ID

14966388

Dimensions Publication ID

9 August 2017

0 references

1 reference

PubMed ID

14966388