Congenital hypothyroidism

MV Rastogi, SH LaFranchi - Orphanet journal of rare diseases, 2010 - Springer
Congenital hypothyroidism (CH) occurs in approximately 1: 2,000 to 1: 4,000 newborns. The
clinical manifestations are often subtle or not present at birth. This likely is due to trans …

Mutations in G protein–coupled receptors: mechanisms, pathophysiology and potential therapeutic approaches

T Schöneberg, I Liebscher - Pharmacological reviews, 2021 - ASPET
There are approximately 800 annotated G protein–coupled receptor (GPCR) genes, making
these membrane receptors members of the most abundant gene family in the human …

Recurrent GNAS Mutations Define an Unexpected Pathway for Pancreatic Cyst Development

J Wu, H Matthaei, A Maitra, M Dal Molin… - Science translational …, 2011 - science.org
More than 2% of the adult US population harbors a pancreatic cyst. These often pose a
difficult management problem because conventional criteria cannot always distinguish cysts …

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors

G Goh, UI Scholl, JM Healy, M Choi, ML Prasad… - Nature …, 2014 - nature.com
Adrenal tumors autonomously producing cortisol cause Cushing's syndrome,,,. We
performed exome sequencing of 25 tumor-normal pairs and identified 2 subgroups. Eight …

Gαs–Protein kinase a (PKA) pathway signalopathies: the emerging genetic landscape and therapeutic potential of human diseases driven by aberrant Gαs-PKA …

DJ Ramms, F Raimondi, N Arang, FW Herberg… - Pharmacological …, 2021 - ASPET
Many of the fundamental concepts of signal transduction and kinase activity are attributed to
the discovery and crystallization of cAMP-dependent protein kinase, or protein kinase A …

Internalization of G-protein-coupled receptors: Implication in receptor function, physiology and diseases

D Calebiro, A Godbole - Best practice & research Clinical endocrinology & …, 2018 - Elsevier
G protein-coupled receptors (GPCRs) are the largest family of membrane receptors and
mediate the effects of numerous hormones and neurotransmitters. The nearly 1000 GPCRs …

G protein-coupled receptor-G protein interactions: a single-molecule perspective

D Calebiro, Z Koszegi, Y Lanoiselée… - Physiological …, 2021 - journals.physiology.org
G protein-coupled receptors (GPCRs) regulate many cellular and physiological processes,
responding to a diverse range of extracellular stimuli including hormones, neurotransmitters …

From somatic mutation to early detection: insights from molecular characterization of pancreatic cancer precursor lesions

CG Fischer, LD Wood - The Journal of pathology, 2018 - Wiley Online Library
Pancreatic cancer arises from noninvasive precursor lesions, including pancreatic
intraepithelial neoplasia (PanIN), intraductal papillary mucinous neoplasm (IPMN), and …

Pseudohypoparathyroidism and Gsα–cAMP-linked disorders: current view and open issues

G Mantovani, A Spada, FM Elli - Nature Reviews Endocrinology, 2016 - nature.com
Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the
underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G …

Two complementary bioassays for screening the estrogenic potency of xenobiotics: recombinant yeast for trout estrogen receptor and trout hepatocyte cultures

F Petit, P Le Goff, JP Cravedi… - Journal of Molecular …, 1997 - jme.bioscientifica.com
A relation between the chemical structure of a xenobiotic and its steroidal action has not yet
been clearly established. Thus, it is not possible to define the estrogenic potency of different …