منابع مشابه
P-85: How a Frame Shift Caused by a Single Base Deletion In SEPT12 Gene Shed Lights As a Polymorphism
Background: Septins are members of highly conserved polymerizing GTP binding proteins well described in the animal kingdom. 14 Septin proteins have been characterized in humans (SEPT1-SEPT14), some of which are tissue-specific. All of 14 genome-mapped human septins contain a highly conserved central GTP-binding domain which is very critical in GTPase signaling properties as well as oligomerizat...
متن کاملThe proopiomelanocortin gene: discovery, deletion and disease
The cloning of the bovine proopiomelanocortin (POMC) cDNA in 1978 by Nakanishi and colleagues was the result of a remarkable series of exacting and ingenious experiments. With this work, they instantly confirmed the single precursor hypothesis for adrenocorticotrophic hormone-β-lipotropin, as it was then known, and in so doing revealed the existence of additional, largely unpredicted, N-termina...
متن کاملDiabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.
BACKGROUND Mutations of the preproinsulin gene (INS) account for both permanent neonatal diabetes (PND) and adult-onset diabetes. The molecular mechanism of complete INS deletion has recently been published and we now add clinical data of homozygous and heterozygous subjects as well as the detailed mapping of the 646 bp deletion of the INS gene. METHODS Location and size of the INS deletion w...
متن کاملActivation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene.
The Dlk1-Gtl2 imprinting locus is located on mouse distal chromosome 12 and consists of multiple maternally expressed non-coding RNAs and several paternally expressed protein-coding genes. The imprinting of this locus plays a crucial role in embryonic development and postnatal growth. At least one cis-element, the intergenic differentially methylated region (IG-DMR) is required for expression o...
متن کامل5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C.
Haploinsufficiency of RASA1, located on chromosome 5q14.3, has been identified as the etiology underlying the disorder capillary malformation-arteriovenous malformation (CM-AVM). Recently, haploinsufficiency of MEF2C, located 1.33 Mb distal to RASA1 on chromosome 5q14.3, has been implicated as the genetic etiology underlying a complex array of deficits including mental retardation, hypotonia, a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nature
سال: 1974
ISSN: 0028-0836,1476-4687
DOI: 10.1038/251373a0