[HTML][HTML] Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders

J Martinez-Mayer, MI Perez-Millan - Frontiers in Endocrinology, 2023 - frontiersin.org
Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind
PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory …

[HTML][HTML] Genetic architecture of DCC and influence on psychological, psychiatric and cardiometabolic traits in multiple ancestry groups in UK Biobank

L Forsyth, A Aman, B Cullen, N Graham… - Journal of Affective …, 2023 - Elsevier
Background People with severe mental illness have a higher risk of cardiometabolic disease
than the general population. Traditionally attributed to sociodemographic, behavioural …

[HTML][HTML] Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism

T Wang, W Ren, F Fu, H Wang, Y Li, J Duan - Heliyon, 2024 - cell.com
Objectives CHARGE syndrome is a congenital hereditary condition involving multiple
systems. Patients are easily misdiagnosed with idiopathic hypogonadotropic hypogonadism …

[HTML][HTML] Whole exome-trio analysis reveals rare variants associated with Congenital Pouch Colon

S Gupta, P Mathur, AK Mishra, KM Medicherla… - Children, 2023 - mdpi.com
Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon
(CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the …

[HTML][HTML] Genetic architecture of DCC and influence on psychological, psychiatric and cardiometabolic traits in multiple ancestry groups in UK Biobank

R Strawbridge, L Forsyth, B Cullen, N Graham, D Lyall… - 2022 - europepmc.org
People with severe mental illness have a higher risk of cardiometabolic disease than the
general population. Traditionally attributed to sociodemographic and behavioural factors …

[HTML][HTML] Molecular Genetics of Rare Growth and Puberty Disorders in Finland

AP Iivonen - 2022 - helda.helsinki.fi
Growth and pubertal development are complex and interconnected processes, disruption of
which leads to abnormal development of the adult height or secondary sexual …