Search Results - "Gergics, Peter"

Gene Expression in Mouse Thyrotrope Adenoma: Transcription Elongation Factor Stimulates Proliferation by Gergics, Peter, Christian, Helen C, Choo, Monica S, Ajmal, Adnan, Camper, Sally A

“…Thyrotrope hyperplasia and hypertrophy are common responses to primary hypothyroidism. To understand the genetic regulation of these processes, we studied gene…”
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Murine SEC24D can substitute functionally for SEC24C during embryonic development by Adams, Elizabeth J., Khoriaty, Rami, Kiseleva, Anna, Cleuren, Audrey C. A., Tomberg, Kärt, van der Ent, Martijn A., Gergics, Peter, Tang, Vi T., Zhu, Guojing, Hoenerhoff, Mark J., O’Shea, K. Sue, Saunders, Thomas L., Ginsburg, David

“…The COPII component SEC24 mediates the recruitment of transmembrane cargos or cargo adaptors into newly forming COPII vesicles on the ER membrane. Mammalian…”
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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders by Ferreira, Nathalia G B P, Madeira, Joao L O, Gergics, Peter, Kertsz, Renata, Marques, Juliana M, Trigueiro, Nicholas S S, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna V, Fernandes, Bianca H V, Bissegatto, Debora D, Biscotto, Isabela P, Fang, Qing, Ma, Qianyi, Ozel, Asye B, Li, Jun, Camper, Sally A, Jorge, Alexander A L, Mendonça, Berenice B, Arnhold, Ivo J P, Carvalho, Luciani R

“…Context Congenital hypopituitarism is a genetically heterogeneous condition. Whole exome sequencing (WES) is a promising approach for molecular diagnosis of…”
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The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model by Polk, Renita C, Gergics, Peter, Steimle, Jeffrey D, Li, Huiqing, Moskowitz, Ivan P, Camper, Sally A, Reeves, Roger H

“…Nearly half of all individuals with Down Syndrome (DS) have some type of congenital heart defect (CHD), suggesting that DS sensitizes to CHD but does not cause…”
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The 83,557insA variant of the gene coding 11β-hydroxysteroid dehydrogenase type 1 enzyme associates with serum osteocalcin in patients with endogenous Cushing's syndrome by Szappanos, Ágnes, Patócs, Attila, Gergics, Péter, Bertalan, Rita, Kerti, Andrea, Ács, Bence, Feldmann, Karolina, Rácz, Károly, Tóth, Miklós

“…▶ Investigating the clinical importance of the 83,557insA variant of the HSD11B1 gene. ▶ Patients with endogenous Cushing's syndrome and healthy controls. ▶…”
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Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene by Tõke, Judit, Czirják, Gábor, Patócs, Attila, Enyedi, Balázs, Gergics, Péter, Csákváry, Violetta, Enyedi, Péter, Tóth, Miklós

“…Summary Introduction  Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium‐sensing receptor (CaSR). Only three…”
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Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction by Gergics, Peter, Patocs, Attila, Majnik, Judit, Balogh, Katalin, Szappanos, Agnes, Toth, Miklos, Racz, Karoly

“…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…”
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Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family by Patocs, Attila, Gergics, Peter, Balogh, Katalin, Toth, Miklos, Fazakas, Ferenc, Liko, Istvan, Racz, Karoly

“…Von Hippel-Lindau disease (VHL) is a rare autosomal dominant disease characterized by development of cystic and tumorous lesions at multiple sites, including…”
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Parathyroid hormone-dependent hypercalcemia by Tőke, Judit, Patócs, Attila, Balogh, Katalin, Gergics, Péter, Stenczer, Balázs, Rácz, Károly, Tóth, Miklós

“…Summary The past fifteen years have resulted in great progress in our understanding of the pathogenesis and pathophysiology of hypercalcemic disorders…”
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Orolabial signs are important clues for diagnosis of the rare endocrine syndrome MEN 2B. Presentation of two unrelated cases by Sallai, Ágnes, Hosszú, Éva, Gergics, Péter, Rácz, Károly, Fekete, György

“…Multiple endocrine neoplasia syndromes (MEN) are genetic disorders with glandular hyperplasia and consecutive malignant neoplasia. MEN type 2B is the least…”
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Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era by Fang, Qing, George, Akima S, Brinkmeier, Michelle L, Mortensen, Amanda H, Gergics, Peter, Cheung, Leonard Y. M, Daly, Alexandre Z, Ajmal, Adnan, Pérez Millán, María Ines, Ozel, A. Bilge, Kitzman, Jacob O, Mills, Ryan E, Li, Jun Z, Camper, Sally A

“…The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations…”
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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency by Gergics, Peter, Smith, Cathy, Bando, Hironori, Jorge, Alexander A.L., Rockstroh-Lippold, Denise, Vishnopolska, Sebastian A., Castinetti, Frederic, Maksutova, Mariam, Carvalho, Luciani Renata Silveira, Hoppmann, Julia, Martínez Mayer, Julián, Albarel, Frédérique, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Martí, Marcelo A., Saveanu, Alexandru, Barlier, Anne, Abou Jamra, Rami, Guo, Michael H., Dauber, Andrew, Nakaguma, Marilena, Mendonca, Berenice B., Jayakody, Sajini N., Ozel, A. Bilge, Fang, Qing, Ma, Qianyi, Li, Jun Z., Brue, Thierry, Pérez Millán, María Ines, Arnhold, Ivo J.P., Pfaeffle, Roland, Kitzman, Jacob O., Camper, Sally A.

“…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…”
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Lhx4 Deficiency: Increased Cyclin-Dependent Kinase Inhibitor Expression and Pituitary Hypoplasia by Gergics, Peter, Brinkmeier, Michelle L, Camper, Sally A

“…Defects in the Lhx4, Lhx3, and Pitx2 genes can cause combined pituitary hormone deficiency and pituitary hypoplasia in both humans and mice. Not much is known…”
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Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease by Bando, Hironori, Gergics, Peter, Bohnsack, Brenda L, Toolan, Kevin P, Richter, Catherine E, Shavit, Jordan A, Camper, Sally A

“…Abstract Combined pituitary hormone deficiency (CPHD) is a genetically heterogeneous disorder caused by mutations in over 30 genes. The loss-of-function…”
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The phenotypic spectrum associated with OTX2 mutations in humans by Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T

“…Objective The transcription factor OTX2is implicated in ocular, craniofacial, and pituitary development. Design We aimed to establish the contribution of OTX2…”
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Pituitary gland development and disease: from stem cell to hormone production by Davis, Shannon W, Ellsworth, Buffy S, Peréz Millan, María Inés, Gergics, Peter, Schade, Vanessa, Foyouzi, Nastaran, Brinkmeier, Michelle L, Mortensen, Amanda H, Camper, Sally A

“…Many aspects of pituitary development have become better understood in the past two decades. The signaling pathways regulating pituitary growth and shape have…”
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ISL1-based LIM complexes control Slit2 transcription in developing cranial motor neurons by Kim, Kyung-Tai, Kim, Namhee, Kim, Hwan-Ki, Lee, Hojae, Gruner, Hannah N., Gergics, Peter, Park, Chungoo, Mastick, Grant S., Park, Hae-Chul, Song, Mi-Ryoung

“…LIM-homeodomain (HD) transcription factors form a multimeric complex and assign neuronal subtype identities, as demonstrated by the hexameric ISL1-LHX3 complex…”
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OR16-04 OTX2 Mutations in Congenital Hypopituitarism Patients by Gregory, Louise Cheryl, Gergics, Peter, Patti, Giuseppa, McCabe, Mark J, Maghnie, Mohamad, Spadoni, Emanuela, Camper, Sally A, Dattani, Mehul T

“…Abstract The transcription factor OTX2 is implicated in pituitary, ocular and craniofacial development. Mutations have been described in patients with variable…”
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OR24-1 Structure-Function Analysis of Human OTX2 Variants Defines Required Region of C-Terminus for Pituitary, Eye, and Craniofacial Development by Bando, Hironori, Carvalho, Luciani, Bohnsack, Brenda, Moreira, Michele, Antonellis, Anthony, Arnhold, Ivo, Camper, Sally, Gergics, Peter

“…OTX2 is a homeobox transcription factor important for eye, craniofacial and midline development. Whole gene deletions and heterozygous mutations in OTX2 cause…”
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SIX3 V ariant Causes Pituitary Stalk Interruption Syndrome and Combined Pituitary Hormone Deficiency by Bando, Hironori, Brinkmeier, Michelle, Gergics, Peter, Fang, Qing, Mortensen, Amanda Helen, Ozel, Ayse Bilge, Ma, Qianyi, Li, Jun, Reynaud, Rachel, Castinetti, Frederic, Brue, Thierry Christian, Camper, Sally Ann

“…Abstract The genetic basis for congenital hypopituitarism and related disorders is beginning to emerge, and over 30 causal genes have been identified…”
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