[HTML][HTML] A Genome-Wide, Fine-Scale Map of Natural Pigmentation Variation in Drosophila melanogaster
Various approaches can be applied to uncover the genetic basis of natural phenotypic
variation, each with their specific strengths and limitations. Here, we use a replicated …
variation, each with their specific strengths and limitations. Here, we use a replicated …
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
A Moawia, R Shaheen, S Rasool… - Annals of …, 2017 - Wiley Online Library
Objective Autosomal recessive primary microcephaly (MCPH) is a rare condition
characterized by a reduced cerebral cortex accompanied with intellectual disability …
characterized by a reduced cerebral cortex accompanied with intellectual disability …
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
RJ Falb, AJ Müller, W Klein, M Grimmel… - Journal of medical …, 2023 - jmg.bmj.com
Background Fetal akinesia (FA) results in variable clinical presentations and has been
associated with more than 166 different disease loci. However, the underlying molecular …
associated with more than 166 different disease loci. However, the underlying molecular …
[PDF][PDF] De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies
Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated
individuals presenting with an overlapping phenotype of mild to severe intellectual disability …
individuals presenting with an overlapping phenotype of mild to severe intellectual disability …
[HTML][HTML] Variability in cochlear implantation outcomes in a large German cohort with a genetic etiology of hearing loss
A Tropitzsch, T Schade-Mann, P Gamerdinger… - Ear and …, 2023 - journals.lww.com
Objectives: The variability in outcomes of cochlear implantation is largely unexplained, and
clinical factors are not sufficient for predicting performance. Genetic factors have been …
clinical factors are not sufficient for predicting performance. Genetic factors have been …
Biotransformation of atrazine in transgenic tobacco cell culture expressing human P450
M Bode, P Stöbe, B Thiede, I Schuphan… - Pest Management …, 2004 - Wiley Online Library
Plant cell cultures in which the appropriate P450 cDNA is introduced are expected to
metabolise certain pesticides in large quantities. Two species of human P450 (CYP1A1 and …
metabolise certain pesticides in large quantities. Two species of human P450 (CYP1A1 and …
A single center experience of prenatal parent‐fetus trio exome sequencing for pregnancies with congenital anomalies
A Dufke, M Hoopmann, S Waldmüller… - Prenatal …, 2022 - Wiley Online Library
Objectives To examine the diagnostic yield of trio exome sequencing in fetuses with multiple
structural defects with no pathogenic findings in cytogenetic and microarray analyses …
structural defects with no pathogenic findings in cytogenetic and microarray analyses …
De novo missense variants in FBXO11 alter its protein expression and subcellular localization
A Gregor, T Meerbrei, T Gerstner… - Human molecular …, 2022 - academic.oup.com
Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as
causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical …
causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical …
[HTML][HTML] Multifactorial regulation of a hox target gene
Hox proteins play fundamental roles in controlling morphogenetic diversity along the
anterior–posterior body axis of animals by regulating distinct sets of target genes. Within …
anterior–posterior body axis of animals by regulating distinct sets of target genes. Within …
Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia
J Park, A Reilaender, JN Petry-Schmelzer… - Neurology …, 2021 - AAN Enterprises
Background and Objectives Our objective was to improve rare variant interpretation using
statistical measures as well as publicly accessible annotation of expression levels and …
statistical measures as well as publicly accessible annotation of expression levels and …