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LUPSKI, JAMES

One or more keywords matched the following items that are connected to LUPSKI, JAMES

Item Type	Name
Academic Article	Characterization of the macromolecular synthesis (MMS) operon from Listeria monocytogenes.
Academic Article	The Haemophilus influenzae dnaG sequence and conserved bacterial primase motifs.
Academic Article	Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.
Academic Article	A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.
Academic Article	Periaxin mutations cause recessive Dejerine-Sottas neuropathy.
Academic Article	Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Academic Article	Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Academic Article	Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Academic Article	Isolation and preliminary characterization of the human and mouse homologues of the bacterial cell cycle gene era.
Academic Article	Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Academic Article	BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Academic Article	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Academic Article	Evolution of ABCA4 proteins in vertebrates.
Academic Article	SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Academic Article	Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.
Academic Article	Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease.
Academic Article	A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Academic Article	Cell cycle arrest in Era GTPase mutants: a potential growth rate-regulated checkpoint in Escherichia coli.
Academic Article	Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Concept	Sequence Homology, Amino Acid
Academic Article	MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

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Sequence Homology Amino Acid