Gene Defects Determine Susceptibility to Cancer and Bone Marrow Failure
... a gene mutation, Dkc1, that affects ribosome function.
involves abnormal bone marrow leading to anemia, immune deficiency and ... to study the Dkc1 mutation in cells from humans with dyskeratosis congenita
and in a genetically altered mouse model. Ruggero had previously developed ...
Telomerase Vital In Maintaining Ability of Stem Cell to Multiply
... are short, and having telomerase doesn't lengthen them right away." The condition in these altered mice bears a close resemblance to dyskeratosis congenita
in humans where stem cells in the bone marrow as well as in the intestine are unable to multiply as required and consequently die early.
congenita in Medical Technology
Gene Therapy Improves Vision in Patients with Congenital Retinal Disease
... Trust at
the Scheie Eye Institute, the Rosanne H. Silbermann Foundation, the Italian
Telethon Foundation, the Associazione Italiana Amaurosi congenita
the National Center for Research Resources, the Howard Hughes Medical
Institute, the National Eye Institute of the National Institutes of ...
congenita in Medical Dictionary
... Myotonia congenita
Definition: Myotonia congenita
is an inheritable congenital (present from ... s, such as those in the legs. Para myotonia congenita
(Hyperkalemic Periodic Paralysis ) Paranasal ...
... of serous otitis media by creating a small hole in the tympanic membrane ( myringotomy ) without the insertion of ventilation tubes. Myotonia congenita
Myringotomy ( Ear Tube Insertion ) Myristical Oil Myxedema ( Hypothyroidism ) Myxoma - Atria l ( Atrial Myxoma - Left ) ... The operation ...
... facioscapulohumeral muscular dystrophy limb -girdle muscular dystrophy Emery-Dreifuss muscular dystrophy myotonic dystrophy myotonia congenita
... Degenerative muscle disease s ( muscular dystrophy , myotonic dystrophy , myositis ) Neurodegenerative illnesses ( Parkinson 's disease ...
... Phenylketonuria ( PKU ) Williams syndrome Noonan syndrome Rubinstein-Taybi syndrome Blepharo phimosis syndrome ... Para myotonia congenita
(Hyperkalemic Periodic Paralysis ) Paranasal Sinus Radiography ( Sinus es X-Ray ) Paranoid Personality Disorder Paranoid Schizophrenia ( ...
congenita in Biological News
Peter Baumann named Howard Hughes Medical Institute Early Career Scientist
... research team hopes to lay the foundation for the development of treatments for cancer as well as degenerative syndromes such as dyskeratosis congenita
and aplastic anemia.
Dr. Baumann leads an eight-person team at the Stowers Institute composed of postdoctoral researchers, graduate students, and ...
A little telomerase isn't enough
... develop," says Greider, whose lab reported the role of the critically short telomere in 2001.
The usual treatment for people with dyskeratosis congenita
is a bone marrow transplant from an unaffected family member. But the team's new findings in mice suggest that the family member chosen for the ...