Publications related to Germline mutation

Alternative splicing is now recognized as a major mechanism for transcriptome and proteome diversity in higher eukaryotes, yet its evolution is poorly understood. Most studies focus on the evolution of exons and introns at the gene level, while only few co ...

Ieee Computer Soc2013

Shifting Fitness Landscapes In Response To Altered Environments

Jeffrey David Jensen, Claudia Bank

The role of adaptation in molecular evolution has been contentious for decades. Here, we shed light on the adaptive potential in Saccharomyces cerevisiae by presenting systematic fitness measurements for all possible point mutations in a region of Hsp90 un ...

Wiley-Blackwell2013

Alzheimer's disease mutations in APP but not γ-secretase modulators affect epsilon-cleavage-dependent AICD production

Freddy Radtke, Matteo Dal Peraro, Patrick Fraering, Mitko Dimitrov, Thomas Lemmin, Rajwinder Lehal, Jemila Houacine, Andrzej Jacek Fligier

Pathological amino-acid substitutions in the amyloid precursor protein (APP) and chemical gamma-secretase modulators affect the processing of APP by the gamma-secretase complex and the production of the amyloid-beta peptide A beta 42, the accumulation of w ...

Nature Publishing Group2013

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Françoise Gisou van der Goot Grunberg, Matteo Dal Peraro, Thomas Lemmin, Suzanne Salvi, Shixu Yan

Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis. Sixty percent of patients carry frameshift mutations at a mutational hotspot in exon 13. We show in patient ...

Wiley-Blackwell2013

Molecular basis of telomere syndrome caused by CTC1 mutations

Joachim Lingner, Jana Majerská, Liuh-Yow Chen

Mutations in CTC1 lead to the telomere syndromes Coats Plus and dyskeratosis congenita (DC), but the molecular mechanisms involved remain unknown. CTC1 forms with STN1 and TEN1 a trimeric complex termed CST, which binds ssDNA, promotes telomere DNA synthes ...

Cold Spring Harbor Laboratory Press2013

Mutator/hypermutable fetal/juvenile metakaryotic stem cells and human colorectal carcinogenesis

Stephan Morgenthaler, Paul Refinetti

Adult age-specific colorectal cancer incidence rates increase exponentially from maturity, reach a maximum, then decline in extreme old age. Armitage and Doll (1) postulated that the exponential increase resulted from “n” mutations occurring throughout adu ...

2013

Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility

Alexandre Gattiker

Mammalian spermatogenesis is a process that involves a complex expression program in both somatic and germ cells present in the male gonad. A number of studies have attempted to define the transcriptome of male meiosis and gametogenesis in rodents and prim ...

Oxford University Press2012

Neurodegenerative phenotypes in an A53T-synuclein transgenic mouse model are independent of LRRK2

Darren Moore, Alessandra Musso

Mutations in the genes encoding LRRK2 and -synuclein cause autosomal dominant forms of familial Parkinsons disease (PD). Fibrillar forms of -synuclein are a major component of Lewy bodies, the intracytoplasmic proteinaceous inclusions that are a pathologic ...

Oxford University Press2012

Chat with Graph Search

Ask any question about EPFL courses, lectures, exercises, research, news, etc. or try the example questions below.

DISCLAIMER: The Graph Chatbot is not programmed to provide explicit or categorical answers to your questions. Rather, it transforms your questions into API requests that are distributed across the various IT services officially administered by EPFL. Its purpose is solely to collect and recommend relevant references to content that you can explore to help you answer your questions.

Germline mutation

A transcript perspective on evolution

Shifting Fitness Landscapes In Response To Altered Environments

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

Alzheimer's disease mutations in APP but not γ-secretase modulators affect epsilon-cleavage-dependent AICD production

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Molecular basis of telomere syndrome caused by CTC1 mutations

Mutator/hypermutable fetal/juvenile metakaryotic stem cells and human colorectal carcinogenesis

Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility

VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans

Neurodegenerative phenotypes in an A53T-synuclein transgenic mouse model are independent of LRRK2

Graph Chatbot

Chat with Graph Search

Molecular basis of telomere syndrome caused by CTC1 mutations

A transcript perspective on evolution

Shifting Fitness Landscapes In Response To Altered Environments

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

Alzheimer's disease mutations in APP but not γ-secretase modulators affect epsilon-cleavage-dependent AICD production

Global human tissue profiling and protein network analysis reveals distinct levels of transcriptional germline-specificity and identifies target genes for male infertility

Mutator/hypermutable fetal/juvenile metakaryotic stem cells and human colorectal carcinogenesis

VAX1 Mutation Associated with Microphthalmia, Corpus Callosum Agenesis, and Orofacial Clefting: The First Description of a VAX1 Phenotype in Humans

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Neurodegenerative phenotypes in an A53T-synuclein transgenic mouse model are independent of LRRK2