[HTML][HTML] Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family

PW Kleyn, W Fan, SG Kovats, JJ Lee, JC Pulido, Y Wu… - Cell, 1996 - cell.com
The mutated gene responsible for the tubby obesity phenotype has been identified by
positional cloning. A single base change within a splice donor site results in the incorrect …

The completion of the mammalian gene collection (MGC)

G Temple, DS Gerhard, R Rasooly… - Genome …, 2009 - genome.cshlp.org
Since its start, the Mammalian Gene Collection (MGC) has sought to provide at least one full-
protein-coding sequence cDNA clone for every human and mouse gene with a RefSeq …

A collection of tri-and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps

VC Sheffield, JL Weber, KH Buetow… - Human molecular …, 1995 - academic.oup.com
We report a collection of tri-and tetranucleotide repeat sequence polymorphic markers used
to construct genome-wide human linkage maps. Using a strategy of marker selection to …

Novel mutations and a mutational hotspot in the M0DY3 Gene

MA Glucksmann, M Lehto, O Tayber, S Scotti… - Diabetes, 1997 - Am Diabetes Assoc
Maturity-onset diabetes of the young 3 (MODY3) is a type of NIDDM caused by mutations in
the transcription factor hepatocyte nuclear factor-1a (HNF-1α) located on chromosome 12q …

The JAMM motif of human deubiquitinase Poh1 is essential for cell viability

M Gallery, JL Blank, Y Lin, JA Gutierrez, JC Pulido… - Molecular cancer …, 2007 - AACR
Poh1 deubiquitinase activity is required for proteolytic processing of polyubiquitinated
substrates by the 26S proteasome, linking deubiquitination to complete substrate …

Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers

JM Gastier, JC Pulido, S Sunden, T Brody… - Human molecular …, 1995 - academic.oup.com
Genetic markers based upon PCR amplification of short tandem repeat-containing
sequence tagged sites (STSs) have become the standard for genetic mapping. We have …

MATS: a rapid and efficient method for the development of microsatellite markers from YACs

H Chen, JC Pulido, GM Duyk - Genomics, 1995 - Elsevier
In this report, we describe the successful application of a rapid and efficient procedure,
based on subtractive hybridization and PCR amplification, for generating microsatellite …

Antagonism of chemokine receptor CCR8 is ineffective in a primate model of asthma

L Wang, TJ Jenkins, M Dai, W Yin, JC Pulido… - Thorax, 2013 - thorax.bmj.com
Background Expression of the T-cell-associated chemokine receptor CCR8 and its ligand
CCL1 have been demonstrated to be elevated in patients with asthma. CCR8 deficiency or …

Development of a screening set for new (CAG/CTG) ndynamic mutations

JM Gastier, T Brody, JC Pulido, T Businga, S Sunden… - Genomics, 1996 - Elsevier
The expansion of a (CAG/CTG) ntriplet repeat has been found to be associated with at least
seven genetic diseases, suggesting that this mechanism of disease may be fairly common …

Chromosomal assignment of 2900 tri-and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2

SLF Sunden, T Businga, J Beck, A McClain, JM Gastier… - Genomics, 1996 - Elsevier
Two thousand nine hundred and thirty-one tri-and tetranucleotide short tandem repeat
polymorphisms (STRPs) developed by the Cooperative Human Linkage Center were …