Nofar Mor
YOU?
Author Swipe
View article: Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder Open
GNAO1-associated disorders are ultra-rare autosomal dominant conditions, which can manifest, depending on the exact pathogenic variant in GNAO1, as a spectrum of neurological phenotypes, including epileptic encephalopathy, developmental de…
View article: LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder Open
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single rare genetic variants contribute to around…
View article: GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis
GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis Open
The transcription factor GATA2 plays a key role in the survival and self-renewal of hematopoietic stem and progenitor cells. Autosomal dominant variants in GATA2 cause a broad spectrum of heterogeneous phenotypes. Here, we present our expe…
View article: A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies Open
Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluat…
View article: Context-dependent functional compensation between Ythdf m<sup>6</sup>A reader proteins
Context-dependent functional compensation between Ythdf m<sup>6</sup>A reader proteins Open
The N6-methyladenosine (m 6 A) modification is the most prevalent post-transcriptional mRNA modification, regulating mRNA decay and splicing. It plays a major role during normal development, differentiation, and disease progression. The mo…
View article: Context-dependent functional compensation between Ythdf m6A readers
Context-dependent functional compensation between Ythdf m6A readers Open
The N6-methyladenosine (m 6 A) modification is the most prevalent post-transcriptional mRNA modification, regulating mRNA decay, translation and splicing. It plays a major role during normal development, differentiation, and disease progre…
View article: Tripartite Inhibition of SRC-WNT-PKC Signalling Consolidates Human Naïve Pluripotency
Tripartite Inhibition of SRC-WNT-PKC Signalling Consolidates Human Naïve Pluripotency Open
Different conditions have been devised to isolate MEK/ERK signalling independent human naïve pluripotent stem cells (PSCs) that are distinct from conventional primed PSCs and better correspond to pre-implantation developmental stages. Whil…
View article: Supplementary materials for Perl et al 2019
Supplementary materials for Perl et al 2019 Open
Supplementary dataset for Perl et al, 2019, "Human non-olfactory cognition phase-locked with inhalation", published in Nature Human Behavior
View article: Supplementary materials for Perl et al 2019
Supplementary materials for Perl et al 2019 Open
Supplementary dataset for Perl et al, 2019, "Human non-olfactory cognition phase-locked with inhalation", published in Nature Human Behavior
View article: Neutralizing Gatad2a-Chd4-Mbd3 Axis within the NuRD Complex Facilitates Deterministic Induction of Naïve Pluripotency
Neutralizing Gatad2a-Chd4-Mbd3 Axis within the NuRD Complex Facilitates Deterministic Induction of Naïve Pluripotency Open
The Nucleosome Remodeling and Deacytelase (NuRD) complex is a co-repressive complex involved in many pathological and physiological processes in the cell. Previous studies have identified one of its components, Mbd3, as a potent inhibitor …
View article: High-Resolution Dissection of Conducive Reprogramming Trajectory to Ground State Pluripotency
High-Resolution Dissection of Conducive Reprogramming Trajectory to Ground State Pluripotency Open
The ability to reprogram somatic cells into induced pluripotent stem cells (iPSCs) with four transcription factors Oct4, Sox2, Klf4 and cMyc (abbreviated as OSKM) 1 has provoked interest to define the molecular characteristics of this proc…
View article: A multiplexed screening method for pluripotency
A multiplexed screening method for pluripotency Open
Measurement of Alkaline Phosphatase (ALP) level is a widely used procedure in clinical and basic research. We present a simple and inexpensive luminescence-based method that allows multiplexed measurement and normalization of intracellular…
View article: Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder
Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder Open
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by mutations or rearrangements in PLP1. It presents in infancy with nystagmus, jerky head movements, hypotonia and developmental delay evolving into spastic …
View article: Mbd3/NuRD is a Key Inhibitory Module During the Induction and Maintenance of Naïve Pluripotency
Mbd3/NuRD is a Key Inhibitory Module During the Induction and Maintenance of Naïve Pluripotency Open
Our group has published a study on induced pluripotent stem cell (iPSC) reprogramming (Rais et al. Nature 2013 1 ) that reached the following conclusions: a) Mbd3/NuRD is a repressor of inducing naïve pluripotency from mouse Epiblast stem …
View article: m <sup>6</sup> A mRNA methylation facilitates resolution of naïve pluripotency toward differentiation
m <sup>6</sup> A mRNA methylation facilitates resolution of naïve pluripotency toward differentiation Open
mRNA modification regulates pluripotency When stem cells progress from an embryonic pluripotent state toward a particular lineage, molecular switches dismantle the transcription factor network that keeps the cell pluripotent. Geula et al. …