User profiles for "author:Julian A Martinez-Agosto"
Julian A Martinez-AgostoAssociate Professor of Human Genetics, UCLA Verified email at mednet.ucla.edu Cited by 10089 |
The hematopoietic stem cell and its niche: a comparative view
JA Martinez-Agosto, HKA Mikkola… - Genes & …, 2007 - genesdev.cshlp.org
Stem cells have been identified as a source of virtually all highly differentiated cells that are
replenished during the lifetime of an animal. The critical balance between stem and …
replenished during the lifetime of an animal. The critical balance between stem and …
Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
KM Keppler‐Noreuil, VER Parker… - American Journal of …, 2016 - Wiley Online Library
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …
Clinical exome sequencing for genetic identification of rare Mendelian disorders
H Lee, JL Deignan, N Dorrani, SP Strom, S Kantarci… - Jama, 2014 - jamanetwork.com
Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …
Clinical application of next-generation sequencing to the practice of neurology
J Rexach, H Lee, JA Martinez-Agosto… - The Lancet …, 2019 - thelancet.com
Next-generation sequencing technologies allow for rapid and inexpensive large-scale
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …
genomic analysis, creating unprecedented opportunities to integrate genomic data into the …
A Hedgehog- and Antennapedia-dependent niche maintains Drosophila haematopoietic precursors
The Drosophila melanogaster lymph gland is a haematopoietic organ,, in which pluripotent
blood cell progenitors proliferate and mature into differentiated haemocytes. Previous work …
blood cell progenitors proliferate and mature into differentiated haemocytes. Previous work …
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
VA Arboleda, H Lee, R Parnaik, A Fleming… - Nature …, 2012 - nature.com
IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal
hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder …
hypoplasia congenita and genital anomalies) is an undergrowth developmental disorder …
[HTML][HTML] Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
Background Structural variation (SV) influences genome organization and contributes to
human disease. However, the complete mutational spectrum of SV has not been routinely …
human disease. However, the complete mutational spectrum of SV has not been routinely …
[HTML][HTML] Interaction between differentiating cell-and niche-derived signals in hematopoietic progenitor maintenance
Maintenance of a hematopoietic progenitor population requires extensive interaction with
cells within a microenvironment or niche. In the Drosophila hematopoietic organ, niche …
cells within a microenvironment or niche. In the Drosophila hematopoietic organ, niche …
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Purpose We investigated the value of transcriptome sequencing (RNAseq) in ascertaining
the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from …
the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from …
[PDF][PDF] Dual role of wingless signaling in stem-like hematopoietic precursor maintenance in Drosophila
In Drosophila, blood development occurs in a specialized larval hematopoietic organ, the
lymph gland (LG), within which stem-like hemocyte precursors or prohemocytes differentiate …
lymph gland (LG), within which stem-like hemocyte precursors or prohemocytes differentiate …