Pluripotency redux—advances in stem-cell research
Deciphering the molecular basis of pluripotency will facilitate the development of procedures
for efficiently deriving patient-specific stem cells. Dr. John Gearhart, Evanthia Pashos, and …
for efficiently deriving patient-specific stem cells. Dr. John Gearhart, Evanthia Pashos, and …
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Background Orodental diseases include several clinically and genetically heterogeneous
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …
disorders that can present in isolation or as part of a genetic syndrome. Due to the vast …
[HTML][HTML] Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
E Schaefer, C Stoetzel, S Scheidecker… - Journal of human …, 2016 - nature.com
Abstract Bardet–Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous
ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity …
ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity …
Insights into ciliary genes and evolution from multi-level phylogenetic profiling
Cilia (flagella) are important eukaryotic organelles, present in the Last Eukaryotic Common
Ancestor, and are involved in cell motility and integration of extracellular signals. Ciliary …
Ancestor, and are involved in cell motility and integration of extracellular signals. Ciliary …
Gpnmb is a melanoblast‐expressed, MITF‐dependent gene
SK Loftus, A Antonellis, I Matera… - Pigment cell & …, 2009 - Wiley Online Library
Expression profile analysis clusters Gpnmb with known pigment genes, Tyrp1, Dct, and Si.
During development, Gpnmb is expressed in a pattern similar to Mitf, Dct and Si with …
During development, Gpnmb is expressed in a pattern similar to Mitf, Dct and Si with …
[HTML][HTML] SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer
Background The ERBB3 gene is essential for the proper development of the neural crest
(NC) and its derivative populations such as Schwann cells. As with all cell fate decisions …
(NC) and its derivative populations such as Schwann cells. As with all cell fate decisions …
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta
M Huckert, C Stoetzel, S Morkmued… - Human molecular …, 2015 - academic.oup.com
Inherited dental malformations constitute a clinically and genetically heterogeneous group of
disorders. Here, we report on four families, three of them consanguineous, with an identical …
disorders. Here, we report on four families, three of them consanguineous, with an identical …
[HTML][HTML] Beyond the promise: evaluating and mitigating off-target effects in CRISPR gene editing for safer therapeutics
Over the last decade, CRISPR has revolutionized drug development due to its potential to
cure genetic diseases that currently do not have any treatment. CRISPR was adapted from …
cure genetic diseases that currently do not have any treatment. CRISPR was adapted from …
Close association of olfactory placode precursors and cranial neural crest cells does not predestine cell mixing
MV Harden, L Pereiro, M Ramialison… - Developmental …, 2012 - Wiley Online Library
Vertebrate sensory organs originate from both cranial neural crest cells (CNCCs) and
placodes. Previously, we have shown that the olfactory placode (OP) forms from a large field …
placodes. Previously, we have shown that the olfactory placode (OP) forms from a large field …
[HTML][HTML] A Polymorphic 3'UTR Element in ATP1B1 Regulates Alternative Polyadenylation and Is Associated with Blood Pressure
MK Prasad, K Bhalla, ZH Pan, JR O'Connell… - PLoS …, 2013 - journals.plos.org
Although variants in many genes have previously been shown to be associated with blood
pressure (BP) levels, the molecular mechanism underlying these associations are mostly …
pressure (BP) levels, the molecular mechanism underlying these associations are mostly …