Tag:
mutation
ENGLISH MAGAZINE
Myelofibrosis: vitamin D does not help the marrow at all
There are three types of blood cell: white blood cells, red blood cells  and platelets. All three types are created from hematopoietic stem cells...
ENGLISH MAGAZINE
CDK6: once removed, the mutant gets JAcK 2 order
Myeloproliferative neoplasms (MPNs) are a group of rare, malignant diseases of the bone marrow involving the production of an excess of red blood cells,...
ENGLISH MAGAZINE
Medulloblastoma: on the hunt for mutations and solutions
Among young children, medulloblastoma is among the most common form of brain tumor. Medulloblastoma, which is divided into four subgroups, is partially caused when...
ENGLISH MAGAZINE
ALS: cellular stressors and basic activity wake up the sick gene
Patients with amyotrophic lateral sclerosis (ALS) frequently have a string of repeated DNA code in brain neurons, carrying hundreds to thousands of copies within...
ENGLISH MAGAZINE
PSP: being orphan for drugs, the tracer at least marks for discrimination
PSP is is a rare brain disorder of the atypical parkinsonism group, characterized by four-repeat tau aggregates in neurons (neurofibrillary tangles) and glia in...
ENGLISH MAGAZINE
CMT syndrome: the mechanism beneath that keeps “hands and feet” tied
About 1 in 2,500 people have a degenerative nerve disease called Charcot-Marie-Tooth (CMT). The disease is typically diagnosed in children, who may lose their...
ENGLISH MAGAZINE
Gene therapy: would ALS and SMA be the next candidates?
Spinal muscular atrophy and amyotrophic lateral sclerosis are two devastating neurological conditions with the common pathological sign of motor neuron degeneration, which eventually leads...
ENGLISH MAGAZINE
The sick gene “shifts the skin”: the case for AEC syndrome
The origin of many diseases lies in the genetic anomalies that cause malfunctions in the proteins that encode. A well-known and widely studied example...
