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TranscriptomicsMicroarray Analysis Gene Expression Profiles in Laryngeal Muscle After Recurrent Laryngeal Nerve Injury
The pathophysiology of recurrent laryngeal nerve (RLN) transection injury is rare in that it is characteristically followed by a high degree of spontaneous reinnervation, with reinnervation of the laryngeal adductor complex (AC) preceding that of the abducting posterior cricoarytenoid (PCA) muscle. ...
ORGANISM(S): Rattus norvegicus 
2016-07-01 | E-GEOD-72361 | biostudies-arrayexpress
TranscriptomicsLNCaP Atlas: Gene expression associated with in vivo progression to castration-recurrent prostate cancer
Background: There is no cure for castration-recurrent prostate cancer (CRPC) and the mechanisms underlying this stage of the disease are unknown. Methods: We analyzed the transcriptome of human LNCaP prostate cancer cells as they progress to CRPC in vivo using replicate LongSAGE libraries. We refer ...
ORGANISM(S): Homo sapiens 
2010-09-26 | E-GEOD-18402 | biostudies-arrayexpress
GenomicsRecurrent FOXA1 mutation redirects NIPBL chromatin distribution
Recurrent FOXA1 mutation redirects NIPBL chromatin distribution
PRJNA1396651 | ENA
TranscriptomicsRecurrent 15q13 microdeletions
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine patients, including six probands; two with de novo deletions, two who inherited the deletion from an affected parent, and two with unknown inheritance. The...
ORGANISM(S): Homo sapiens 
2010-05-26 | E-GEOD-10189 | biostudies-arrayexpress
TranscriptomicsRecurrent TCF12 mutations in anaplastic oligodendroglioma (Part II, genotyping by array)
A Cartes d'Identite des Tumeurs (CIT) project from the french Ligue Nationale Contre le Cancer (http://cit.ligue-cancer.net); Anaplastic oligodendrogliomas (AOs) are rare primary brain tumors which are generally incurable with few treatment targets identified. Most oligodendrogliomas have chromosome...
ORGANISM(S): Homo sapiens 
2015-06-15 | E-MTAB-2771 | biostudies-arrayexpress
TranscriptomicsAn activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Inflammasomes are intracellular innate immune sensors that respond to pathogen and damage-associated signals with the proteolytic cleavage of caspase-1, resulting in IL-1_ and IL-18 secretion and macrophage pyroptosis. The discovery that heterozygous gain-of-function mutations in NLRP3 lead to overs...
ORGANISM(S): Homo sapiens 
2014-09-08 | E-GEOD-57253 | biostudies-arrayexpress
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
TranscriptomicsHigh-Resolution Genomic Profiling of Adult and Pediatric Core-Binding-Factor Acute Myeloid Leukemia Reveals New Recurrent Genomic Alterations
To identify cooperating lesions in core-binding-factor acute myeloid leukemia (CBF-AML), we performed single-nucleotide polymorphism (SNP)-array analysis on 300 diagnostic and 41 relapse adult and pediatric leukemia samples. We identified a mean of 1.28 copy number alterations (CNAs) per case at dia...
ORGANISM(S): Homo sapiens 
2012-02-07 | E-GEOD-32462 | biostudies-arrayexpress
GenomicsA Recurrent RECQL4 Mutation in Rothmund-Thomson Syndrome Impairs Protein Function by Altering Transcript Splicing
A Recurrent RECQL4 Mutation in Rothmund-Thomson Syndrome Impairs Protein Function by Altering Transcript Splicing
PRJNA670358 | ENA
GenomicsImpaired DNA methylation in oocytes with a mutation in KHDC3L causing recurrent hydatidiform mole
Impaired DNA methylation in oocytes with a mutation in KHDC3L causing recurrent hydatidiform mole
PRJNA506728 | ENA
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