【摘 要】
:
With the development of medical genetics,the understanding of genetic disorders changed extremely,from only some rare diseases associated with genetic in the beginning to that almost all of the diseas
【机 构】
:
Institute of basic medical Sciences,Chinese Academy of Medical Sciences School of basic Medicine,Pek
【出 处】
:
The 2nd International Rare Diseases Research Consortium Conf
论文部分内容阅读
With the development of medical genetics,the understanding of genetic disorders changed extremely,from only some rare diseases associated with genetic in the beginning to that almost all of the diseases (with the exception of trauma,wounds,burns,the accident caused by toxin) are related to genetic at the present.In other words,the term"non hereditary disease"may be no longer used.Its hard to imagine,there is a kind of disease completely having nothing to do with genetic factors.
其他文献
Chronic myelomonocytic leukemia (CMML) is a hematologic disease currently classified in the category of myelodysplastic syndromes / myeloproliferative neoplasm (MDS/MPN).CMML is a clonal disorder in t
Mesenchymal stem cells from multiple myeloma patients (MM-hMSCs) possess abnormal characteristics compared to their counterparts from normal donors (ND-hMSCs),exhibited by an enhanced spontaneous and
Acute graft-versus-host disease (aGvHD),is the most common complication of allogeneic hematopoietic stem cell transplantation (HSCT),which is often accompanied by impaired hematopoietic reconstitution
Na+/H+ exchanger 1 (NHE1) is an important regulator of intracellular pH (pHi).High pHi is required for cell proliferation and differentiation.Our previous study has proven that the pHi of mesenchymal
ZFX (Zinc finger protein,X-linked) is a key regulator of both embryonic stem cells (ESCs) and hematopoietic stem cells (HSCs).A recent report has demonstrated that Zfx is required for Notch intracellu
Trithorax group proteins methylate lysine 4 of histone3 (H3K4) at active gene promoters.MLL5 protein,a member of the Trithorax protein family,has been implicated in the control of the cell cycle progr
Our recent study identified a nonsense mutation of La-related protein 4B (LARP4B) from whole genome sequencing of a 3-year-old female monozygotic twin pair discordant for MLL-associated acute myeloid
Exposure to a moderate and high dose of ionizing radiation (IR) induces not only acute hematopoietic radiation syndrome (ARS) but also long-term (LT) bone marrow (BM) injury.
Down syndrome (DS) is the most common chromosomal abnormality in humans caused by the presence of all or part of a third copy of chromosome 21.In addition to musculoskeletal and neurodevelopmental abn
Our genomes encode a program for development and adaptive functioning of all our tissues in six billion DNA letters,three billion inherited from each parent,with thousands of rare family variants and