PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory… - Nature …, 2006 - nature.com
Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer
disease and several childhood genetic disorders categorized as neuroaxonal dystrophies …
disease and several childhood genetic disorders categorized as neuroaxonal dystrophies …
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase… - American journal of …, 2015 - Wiley Online Library
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …
Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis
D Syx, T Van Damme, S Symoens… - Human …, 2015 - Wiley Online Library
Bi‐allelic variants in CHST14, encoding dermatan 4‐O‐sulfotransferase‐1 (D4ST1), cause
musculocontractural Ehlers–Danlos syndrome (MC‐EDS), a recessive disorder …
musculocontractural Ehlers–Danlos syndrome (MC‐EDS), a recessive disorder …
Ecstasy: pharmacology and neurotoxicity
J Morton - Current opinion in pharmacology, 2005 - Elsevier
In part because it is amphetamine derived, ecstasy has inherited some of its parent
compound's reputation for being neurotoxic. However, whereas amphetamine and …
compound's reputation for being neurotoxic. However, whereas amphetamine and …
Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) …
The neurotrophin brain-derived neurotrophic factor (BDNF) inhibits food intake, and rodent
models of BDNF disruption all exhibit increased food intake and obesity, as well as …
models of BDNF disruption all exhibit increased food intake and obesity, as well as …
[PDF][PDF] Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux
CF Bartels, H Bükülmez, P Padayatti, DK Rhee… - The American Journal of …, 2004 - cell.com
The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces …
known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces …
Mandibulofacial dysostosis with microcephaly: mutation and database update
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …
[PDF][PDF] RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the
cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac …
cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac …
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
IA Aligianis, CA Johnson, P Gissen, D Chen… - Nature …, 2005 - nature.com
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder
characterized by developmental abnormalities of the eye and central nervous system and by …
characterized by developmental abnormalities of the eye and central nervous system and by …
[PDF][PDF] Histone lysine methylases and demethylases in the landscape of human developmental disorders
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …
regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and …