Results 121 to 130 of about 7,351,528 (349)

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. [PDF]

open access: bronze, 1995
Sylvie Manouvrier   +9 more
openalex   +1 more source

A Point Mutation in Sec61α1 Leads to Diabetes and Hepatosteatosis in Mice

open access: yesDiabetes, 2009
OBJECTIVE Type 2 diabetes is caused by both environmental and genetic factors. To better understand the genetic factors we used forward genetics to discover genes that have not previously been implicated in the development of hyperglycemia or diabetes ...
David J. Lloyd   +2 more
semanticscholar   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

open access: yesFEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Application of a periodic table for the genetic code to influenza A/H3N2 virus [PDF]

open access: yes, 2007
If biologists can utilize a table to have access to biological phenomena in the manner analogous to the periodic table for chemical elements, they may get hold of a directing post in life science.
Susumu Morimoto
core   +1 more source

Diverse point mutations result in glucose-6-phosphate dehydrogenase (G6PD) polymorphism in Taiwan [PDF]

open access: bronze, 1992
Tang K. Tang   +5 more
openalex   +1 more source

Widespread Distribution of a Newly Found Point Mutation in Voltage-Gated Sodium Channel in Pyrethroid-Resistant Aedes aegypti Populations in Vietnam

open access: yesPLoS Neglected Tropical Diseases, 2009
Background Resistance of Aedes aegypti to photostable pyrethroid insecticides is a major problem for disease-vector control programs. Pyrethroids target the voltage-gated sodium channel on the insects' neurons.
H. Kawada   +8 more
semanticscholar   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

open access: yesFEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva   +5 more
wiley   +1 more source

The allelic partition for coalescent point processes [PDF]

open access: yes, 2009
Assume that individuals alive at time $t$ in some population can be ranked in such a way that the coalescence times between consecutive individuals are i.i.d. The ranked sequence of these branches is called a coalescent point process.
Lambert, Amaury
core   +2 more sources

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