The genetics of pituitary adenomas
C Tatsi, CA Stratakis - Journal of clinical medicine, 2019 - mdpi.com
The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified
cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a …
cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a …
Somatic and germline mutations in the pathogenesis of pituitary adenomas
S Vandeva, AF Daly, P Petrossians… - European journal of …, 2019 - academic.oup.com
Pituitary adenomas are frequently occurring neoplasms that produce clinically significant
disease in 1: 1000 of the general population. The pathogenesis of pituitary tumors is a …
disease in 1: 1000 of the general population. The pathogenesis of pituitary tumors is a …
The epigenomics of pituitary adenoma
Background: The vast majority of pituitary tumors are benign and behave accordingly;
however, a fraction are invasive and are more aggressive, with a very small fraction being …
however, a fraction are invasive and are more aggressive, with a very small fraction being …
Splicing machinery is dysregulated in pituitary neuroendocrine tumors and is associated with aggressiveness features
MC Vázquez-Borrego, AC Fuentes-Fayos… - Cancers, 2019 - mdpi.com
Pituitary neuroendocrine tumors (PitNETs) constitute approximately 15% of all brain tumors,
and most have a sporadic origin. Recent studies suggest that altered alternative splicing …
and most have a sporadic origin. Recent studies suggest that altered alternative splicing …
Large genomic aberrations in corticotropinomas are associated with greater aggressiveness
Context Genomic losses/gains are associated with cancer progression and prognosis. In
pituitary adenomas, analyses of copy number variations (CNVs) have shown that a subset of …
pituitary adenomas, analyses of copy number variations (CNVs) have shown that a subset of …
Hypermethylator phenotype and ectopic GIP receptor in GNAS mutation-negative somatotropinomas
M Hage, R Chaligne, S Viengchareun… - The Journal of …, 2019 - academic.oup.com
Context Besides GNAS gene mutations, the molecular pathogenesis of somatotroph
adenomas responsible for gigantism and acromegaly remains elusive. Objective To …
adenomas responsible for gigantism and acromegaly remains elusive. Objective To …
[HTML][HTML] Precsion medicine of monogenic disorders: Lessons learned from the Saudi human genome
M Abedalthagafi - Frontiers in Bioscience-Landmark, 2019 - imrpress.com
Congenital and genetic disorders cause many diseases in Arab countries due to large family
sizes and high levels of inbreeding. Saudi Arabia (SA) has the highest consanguinity rates …
sizes and high levels of inbreeding. Saudi Arabia (SA) has the highest consanguinity rates …
Unmasking a new prognostic marker and therapeutic target from the GDNF-RET/PIT1/p14ARF/p53 pathway in acromegaly
M Chenlo, IA Rodriguez-Gomez, R Serramito… - …, 2019 - thelancet.com
Background Acromegaly is produced by excess growth hormone secreted by a pituitary
adenoma of somatotroph cells (ACRO). First-line therapy, surgery and adjuvant therapy with …
adenoma of somatotroph cells (ACRO). First-line therapy, surgery and adjuvant therapy with …
The genomic landscape of sporadic prolactinomas
SMC De Sousa, PPS Wang, S Santoreneos, A Shen… - Endocrine …, 2019 - Springer
Somatic GNAS and USP8 mutations have been implicated in sporadic somatotrophinomas
and corticotrophinomas, respectively. However, no genes are known to be recurrently …
and corticotrophinomas, respectively. However, no genes are known to be recurrently …
Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond
Introduction: This review explores insights provided by next-generation sequencing (NGS) of
pituitary tumors and the clinical implications. Areas covered: Although syndromic forms …
pituitary tumors and the clinical implications. Areas covered: Although syndromic forms …