University of California

Other

Icahn School of Medicine at Mount Sinai

Mount Sinai School of Medicine

New York University

Len A Pennacchio

Bruce D Gelb

Marco Tartaglia

David R Cox

Feng Chen

Richard M Myers

Tao Zhang

Albert De La Chapelle

Edward M Rubin

Arnold Kriegstein

John L R Rubenstein

Cory R Nicholas

Avi Ma'ayan

Daniel Vogt

Ravi Iyengar

Kanwar K Singh

Anna-Elina Lehesjoki

Jeff L Froula

Kevin S Eng

Axel Visel

Ying-Jiun (Jasmine) Chen

Herein are described a set of novel specific human enhancers for specific forebrain cell types used to study and select for human neural progenitor cells. This approach enables the ability to generate interneurons from human ES, iPS and iN cells, making them available for human transplantation and for molecular/cellular analyzes. These approaches are also directly applicable to generating other neuronal cell types, such as cortical and striatal projection neurons, which have implications for many human diseases.

Brain-specific enhancers for cell-based therapy

Methods for sequencing single large DNA molecules by clonal multiple displacement amplification using barcoded primers. Sequences are binned based on barcode sequences and sequenced using a microdroplet-based method for sequencing large polynucleotide templates to enable assembly of haplotype-resolved complex genomes and metagenomes.

Long-range barcode labeling-sequencing

The present invention is directed to methods of diagnosing Noonan-like syndrome with loose anagen hair comprising detecting a mutation in SHOC2 gene. One specific diagnostic mutation disclosed is an A-to-G transition at position 4 resulting in a mutation at position 2 of SHOC2 amino acid sequence from serine to glycine. The invention also provides related sequences and kits.

SHOC2 mutations causing noonan-like syndrome with loose anagen hair

Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.

Compositions and methods for detecting Noonan syndrome

Methods and materials for studying the effects of a newly identified human gene, APOAV, and the corresponding mouse gene apoAV. The sequences of the genes are given, and transgenic animals which either contain the gene or have the endogenous gene knocked out are described. In addition, single nucleotide polymorphisms (SNPs) in the gene are described and characterized. It is demonstrated that certain SNPs are associated with diseases involving lipids and triglycerides and other metabolic diseases. These SNPs may be used alone or with SNPs from other genes to study individual risk factors. Methods for intervention in lipid diseases, including the screening of drugs to treat lipid-related or diabetic diseases are also disclosed.

Apolipoprotein gene involved in lipid metabolism

Cystatin B mutants

Growing community of inventors

Sebastopol, CA, United States of America

Len A Pennacchio