Genetics of combined pituitary hormone deficiency: roadmap into the genome era
…, ML Brinkmeier, AH Mortensen, P Gergics… - Endocrine …, 2016 - academic.oup.com
The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …
Pituitary gland development and disease: from stem cell to hormone production
SW Davis, BS Ellsworth, MIP Millan, P Gergics… - Current topics in …, 2013 - Elsevier
Many aspects of pituitary development have become better understood in the past two
decades. The signaling pathways regulating pituitary growth and shape have emerged, and the …
decades. The signaling pathways regulating pituitary growth and shape have emerged, and the …
[PDF][PDF] High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
P Gergics, C Smith, H Bando, AAL Jorge… - The American Journal of …, 2021 - cell.com
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases
are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional …
are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional …
The phenotypic spectrum associated with OTX2 mutations in humans
LC Gregory, P Gergics, M Nakaguma… - European Journal of …, 2021 - academic.oup.com
Objective The transcription factor OTX2is implicated in ocular, craniofacial, and pituitary
development. Design We aimed to establish the contribution of OTX2 mutations in congenital …
development. Design We aimed to establish the contribution of OTX2 mutations in congenital …
Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas
…, A Patocs, K Balogh, M Toth, P Gergics… - The Journal of …, 2006 - academic.oup.com
Context: Some variants of the glucocorticoid receptor (GR) gene have been found to alter
glucocorticoid sensitivity and have been associated with altered metabolic profiles. Objective: …
glucocorticoid sensitivity and have been associated with altered metabolic profiles. Objective: …
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the …
Introduction Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating
mutations of human calcium‐sensing receptor (CaSR). Only three heterozygous de novo …
mutations of human calcium‐sensing receptor (CaSR). Only three heterozygous de novo …
Germline VHL gene mutations in Hungarian families with von Hippel–Lindau disease and patients with apparently sporadic unilateral pheochromocytomas
Objective Von Hippel–Lindau (VHL) disease is a hereditary tumor syndrome caused by
mutations or deletions of the VHL tumor-suppressor gene. Germline VHL gene alterations may …
mutations or deletions of the VHL tumor-suppressor gene. Germline VHL gene alterations may …
Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction
The Bcl I polymorphism of the glucocorticoid receptor gene, recently identified as an intronic
C to G change 646 nucleotides downstream of exon 2, has been associated with increased …
C to G change 646 nucleotides downstream of exon 2, has been associated with increased …
[HTML][HTML] Murine SEC24D can substitute functionally for SEC24C during embryonic development
…, K Tomberg, MA van der Ent, P Gergics… - Scientific Reports, 2021 - nature.com
The COPII component SEC24 mediates the recruitment of transmembrane cargos or cargo
adaptors into newly forming COPII vesicles on the ER membrane. Mammalian genomes …
adaptors into newly forming COPII vesicles on the ER membrane. Mammalian genomes …
Novel mutation of the CYP17 gene in two unrelated patients with combined 17α-hydroxylase/17, 20-lyase deficiency: demonstration of absent enzyme activity by …
A Patocs, I Liko, I Varga, P Gergics, A Boros… - The Journal of Steroid …, 2005 - Elsevier
The CYP17 gene, located on chromosome 10q24-q25, encodes the cytochrome P450c17
enzyme. Mutations of this gene cause the 17α-hydroxylase/17,20-lyase deficiency, which is a …
enzyme. Mutations of this gene cause the 17α-hydroxylase/17,20-lyase deficiency, which is a …