Download e-book for iPad: Noonan Syndrome and Related Disorders - A Matter of by Martin Zenker

By Martin Zenker

Show description

Read Online or Download Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling PDF

Similar endocrinology books

Practical Neonatal Endocrinology - download pdf or read online

Книга functional Neonatal Endocrinology sensible Neonatal EndocrinologyКниги Медицина Автор: Amanda Ogilvy-Stuart , Paula Midgley Год издания: 2006 Формат: pdf Издат. :Cambridge college Press Страниц: 228 Размер: 1,2 ISBN: 0521838495 Язык: Английский0 (голосов: zero) Оценка:This guide of neonatal endocrinology offers a wealth of sensible details at the prognosis and administration of suspected endocrine pathology.

Get Lymphedema: Diagnosis and Treatment PDF

Publication via Lee, B. B. , Simon J. Simonian, Benoit Blondeau

Read e-book online Lifestyle Medicine: A Manual for Clinical Practice PDF

Way of life – the way during which humans dwell – is key to wellbeing and fitness, well being, and prevention of illness. It follows that focus to way of life is significantly very important to powerful and winning future health care. yet here’s the problem: well-being care execs obtain little or no, if any, formal education approximately way of life counseling and as a result are ailing outfitted to include way of life concerns into scientific perform.

Charles Sultan, Andrea R. Genazzani's Frontiers in Gynecological Endocrinology: Volume 4: PDF

This quantity offers a complete, updated evaluation on pediatric and adolescent gynecological endocrinology. It covers a truly wide selection of themes with a selected specialize in issues of intercourse differentiation, pubertal maturation, development problems, fundamental and secondary amenorrhea, menstrual issues in youngsters and teens, sexuality, birth control, and being pregnant.

Extra resources for Noonan Syndrome and Related Disorders - A Matter of Deregulated Ras Signaling

Sample text

The hallmark of JMML cells is the hypersensitive pattern of myeloid progenitor colony growth in response to GM-CSF, which is due to a selective inability to down-regulate RAS. Indeed, approximately 50% of children with JMML exhibit either oncogenic RAS mutations or neurofibromin loss of function, the latter is a GTPase activating protein (GAP) for RAS encoded by the NF1 tumor suppressor gene. PTPN11 mutation analysis on a relatively large number of children with NS and JMML has demonstrated the presence of germline mutations in the majority of cases, as well as the occurrence of genotype-phenotype correlations [17, 20, 22].

J Adol Health 2003;32:94–97. 130 Lopez-Rangel E, Malleson PN, Lirenman DS, Roa B, Wiszniewska J, Lewis ME: Systemic lupus erythematosus and other autoimmune disorders in children with Noonan syndrome. Am J Med Genet A 2006;139:239–242. 131 Ganesan V, Kirkham FJ: Noonan syndrome and Moyamoya. Pediatr Neurol 1997;16:256–258. 132 Yamashita Y, Kusaga A, Koga Y, Nagamitsu S-I, Matsuishi T: Noonan syndrome, Moyamoya-like vascular changes, and antiphospholipid antibodies. Pediatr Neurol 2004;31: 364–366.

New information concerning gain-of-function Shp-2 and development has emerged through work with transgenic flies [50]. The Drosophila homolog of PTPN11, corkscrew (csw), acts downstream of several receptor tyrosine kinases 26 controlling developmental processes [51]. While ubiquitous expression of leukemia-associated csw transgenic alleles engendered embryonic or larval lethality, expression of an NS-causing allele, N308D, resulted in ectopic wing vein formation. Activation of Ras was necessary but not sufficient for the expression of these phenotypes.

Download PDF sample

Rated 4.25 of 5 – based on 36 votes