Results 1 to 10 of about 3,349,140 (303)

New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family

Frontiers in Genetics, 2021
IntroductionPhospholipase A2-associated Neurodegeneration (PLAN) is a group of neurodegenerative diseases associated with the alterations of PLA2G6. Some phenotype-genotype association are well known but there is no clear explanation why some cases can ...
Renata Toth-Bencsik, Peter Balicza, Edina Timea Varga, Andras Lengyel, Gabor Rudas, Aniko Gal, Maria Judit Molnar   +6 more
doaj   +1 more source

Oligodendrocyte precursor cells–microglia crosstalk via BMP4 drives microglial neuroprotective response and mitigates Alzheimer’s disease

Signal Transduction and Targeted Therapy
Oligodendrocyte precursor cells (OPCs) rapidly respond to neural injury, becoming activated to preserve myelin homeostasis and interacting with diverse cell types in the central nervous system (CNS). However, the molecular basis of OPC communication with
Soonbong Baek, Jaemyung Jang, Seungeun Yeo, Hyun Jin Jung, Youngshik Choe   +4 more
doaj   +1 more source

The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher Disease

Cells
Background: Gaucher disease (GD) is caused by glucocerebrosidase (GCase) enzyme deficiency, leading to glycosylceramide (Gb-1) and glucosylsphingosine (Lyso-Gb-1) accumulation.
Margarita M. Ivanova, Julia Dao, Neala Loynab, Sohailla Noor, Neil Kasaci, Andrew Friedman, Ozlem Goker-Alpan   +6 more
doaj   +1 more source

Secondary peripheral chondrosarcoma arising in solitary osteochondroma: variables influencing prognosis and survival

Orphanet Journal of Rare Diseases, 2022
Background Secondary peripheral chondrosarcomas arising in solitary osteochondromas is an unusual complication, reported in small series. In this study, we aimed to present our experience with this rare variant of chondrosarcoma and compare results with ...
Alberto Righi, Marina Pacheco, Stefania Cocchi, Sofia Asioli, Marco Gambarotti, Davide Maria Donati, Andrea Evangelista, Maria Gnoli, Manuela Locatelli, Marina Mordenti, Manila Boarini, Evelise Brizola, Elena Pedrini, Luca Sangiorgi   +13 more
doaj   +1 more source

Ethmocephaly: A rare cephalic disorder

Journal of Pediatric Neurosciences, 2016
Dear Sir, A male neonate, product of nonconsanguineous marriage, was delivered vaginally with severe birth asphyxia (Apgar score 3, 4, 6) to a primiparous woman at 36 weeks’ gestation. The mother did not have any medical illness during pregnancy, and an antenatal ultrasound was performed at 29 weeks’ gestation which revealed holoprosencephaly with ...
Dewan, Pooja, Rohatgi, Smriti, Roy, Shambhawi, Batra, Prerna   +3 more
openaire   +3 more sources

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

Orphanet Journal of Rare Diseases
Background Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development.
Maria Gnoli, Marco Gambarotti, Alberto Righi, Eric Lodewijk Staals, Andrea Evangelista, Morena Tremosini, Evelise Brizola, Marina Mordenti, Manila Boarini, Manuela Locatelli, Elena Pedrini, Luca Sangiorgi   +11 more
doaj   +1 more source

A very rare bleeding disorder

BMJ, 1998
As a haematologist, I am often asked to evaluate patients for a possible bleeding disorder. A common story is that the patient has begun to notice bruising for which no antecedent cause can be identified. Many of the patients are young women who often present in early summer when they are more concerned about cosmetic disfigurement than a serious blood
openaire   +3 more sources

Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy

Cells
Fabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects.
Margarita M. Ivanova, Julia Dao, Andrew Friedman, Neil Kasaci, Ozlem Goker-Alpan   +4 more
doaj   +1 more source

MuSA: a Nextflow pipeline for deep, reproducible annotation and clinical ranking of genomic variants

BMC Bioinformatics
Background Accurate clinical interpretation of genetic variants requires integration of functional predictions, evolutionary constraint, population allele frequencies, and clinical evidence from heterogeneous resources.
D. Scognamiglio, E. Bonetti, A. Moroni, L. Sangiorgi, E. Pedrini   +4 more
doaj   +1 more source

Langerhan Cell Histiocytosis: A Rare Disorder With a Rare Presentation

World Journal of Oncology, 2015
Langerhans cell histiocytosis (LCH) is a rare disorder most commonly seen in Caucasians of Northern European decent, male, children. The most common presentation is osteolytic bone lesions. A 44-year-old native American presents with diffuse erythematous, scaling lesions. The patient also had pruritus and lymphadenopathy.
Byragani, Divya, Baradhi, Krishna, Schendrick, Igor, Koya, Supriya   +3 more
openaire   +3 more sources