Genome-wide prediction of disease variant effects with a deep protein language model

N Brandes, G Goldman, CH Wang, CJ Ye, V Ntranos - Nature Genetics, 2023 - nature.com
Predicting the effects of coding variants is a major challenge. While recent deep-learning
models have improved variant effect prediction accuracy, they cannot analyze all coding …

[HTML][HTML] Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma

S Toledo, DM Lourenço Jr, MA Santos, MR Tavares… - Clinics, 2009 - SciELO Brasil
Hypercalcitoninemia has frequently been reported as a marker for medullary thyroid
carcinoma. Currently, calcitonin measurements are mostly useful in the evaluation of tumor …

[HTML][HTML] Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors

A Falchetti, F Marini, E Luzi, F Giusti, L Cavalli… - Genetics in …, 2009 - Elsevier
MEN 1 is a rare hereditary cancer syndrome which manifests a variety of endocrine and non-
endocrine neoplasms and lesions. Growing knowledge of this condition in both its molecular …

Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary …

DM Lourenço Jr, FL Coutinho, RA Toledo… - Journal of Bone and …, 2010 - academic.oup.com
Differences in bone mineral density (BMD) patterns have been recently reported between
multiple endocrine neoplasia type 1–related primary hyperparathyroidism (HPT/MEN1) and …

Penetrance of functioning and nonfunctioning pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1 in the second decade of life

TD Gonçalves, RA Toledo, T Sekiya… - The Journal of …, 2014 - academic.oup.com
Context: Data are scarce on the penetrance of multiple endocrine neoplasia type 1 (MEN1)-
related nonfunctioning pancreatic neuroendocrine tumors (NF-PETs) and insulinomas in …

Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile

DM Lourenço Jr, RA Toledo… - European journal of …, 2008 - academic.oup.com
Objective Only few large families with multiple endocrine neoplasia type 1 (MEN1) have
been documented. Here, we aimed to investigate the clinical features of a seven-generation …

Pituitary tumors in patients with MEN1 syndrome

LV Syro, BW Scheithauer, K Kovacs, RA Toledo… - Clinics, 2012 - SciELO Brasil
We briefly review the characteristics of pituitary tumors associated with multiple endocrine
neoplasia type 1. Multiple endocrine neoplasia type 1 is an autosomal-dominant disorder …

Multiple endocrine neoplasia type 1: analysis of germline MEN1 mutations in the Italian multicenter MEN1 patient database

F Marini, F Giusti, C Fossi, F Cioppi, L Cianferotti… - Endocrine, 2018 - Springer
Purpose Multiple endocrine neoplasia type 1 (MEN1) is caused by germline inactivating
mutations of the MEN1 gene. Currently, no direct genotype–phenotype correlation is …

Could the less-than subtotal parathyroidectomy be an option for treating young patients with multiple endocrine neoplasia type 1-related hyperparathyroidism?

FLM Montenegro, MDEG Brescia… - Frontiers in …, 2019 - frontiersin.org
Background: The surgical treatment of primary hyperparathyroidism (HPT) in patients with
multiple endocrine neoplasia type 1 (MEN1) has evolved due the concern of permanent …

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing

RA Carvalho, B Urtremari, AAL Jorge… - European journal of …, 2018 - academic.oup.com
Background Loss-of-function germline MEN1 gene mutations account for 75–95% of
patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that …