Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.A142T
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PROP1

NM_006261.5:p.A142T

Associated Papers

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Mkaouar R et al.

Frontiers in Genetics, 2021

34539727 (PubMed )
Supplement: Table_2.XLSX › Feuil1

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.

Sproll P et al.

Molecular Genetics & Genomic Medicine, 2018

Tumourigenic non-small-cell lung cancer mesenchymal circulating tumour cells: a clinical case study.

Morrow CJ et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016

27013395 (PubMed )
Supplement: supp_mdw122_mdw122supp_table1.xlsx › M5_ALL_PRESENT

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Reimann E et al.

Human Genomics, 2014

25496518 (PubMed )
Supplement: 40246_2014_20_MOESM1_ESM.xlsx › Sheet1

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

Nyström HF et al.

Pituitary, 2011

[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].

Halász Z

Orvosi Hetilap, 2011

CTNNB1 gene mutations, pituitary transcription factors, and MicroRNA expression involvement in the pathogenesis of adamantinomatous craniopharyngiomas.

Campanini ML et al.

Hormones & Cancer, 2010

Comparative genomics reveals functional transcriptional control sequences in the Prop1 gene.

Ward RD et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2007

Panhypopituitarism: genetic versus acquired etiological factors.

Coya R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.

Halász Z et al.

Endocrine, 2006

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD).

Turton JP et al.

Clinical Endocrinology, 2005

Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia.

Rainbow LA et al.

Clinical Endocrinology, 2005

Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.

McLennan K et al.

Clinical Endocrinology, 2003

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

Vallette-Kasic S et al.

The Journal of Clinical Endocrinology and Metabolism, 2001

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

Deladoëy J et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.

Kandemir N et al.

The Turkish Journal of Pediatrics, 0

SCREENING OF PROP-1, LHX2 AND POU1F1 MUTATIONS IN PATIENTS WITH ECTOPIC POSTERIOR PITUITARY GLAND.

Korkmaz HA et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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