M. Karim

发表

Does the aspartic acid to asparagine substitution at position 76 in the pancreas duodenum homeobox gene (PDX1) cause late-onset type 2 diabetes?

S. Elbein, M. Karim, 2004, Diabetes care.

Association of an insulin gene promoter insertion polymorphism with type 2 diabetes and diabetic nephropathy in African Americans.

D. Bowden, B. Freedman, S. Elbein, 2004, Molecular genetics and metabolism.

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

R. Spritz, K. Fukai, K. Moore, 1996, American journal of human genetics.

Gene structure, expression and identification of a new CTP:phosphocholine cytidylyltransferase beta isoform.

S. Jackowski, P. Jackson, M. Karim, 2003, Biochimica et biophysica acta.

Overexpression of a Mammalian Ethanolamine-specific Kinase Accelerates the CDP-ethanolamine Pathway*

A. Lykidis, S. Jackowski, Jina Wang, 2001, The Journal of Biological Chemistry.

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

R. Spritz, D. Nagle, K. Moore, 1997, Human molecular genetics.

Disruption of CCTβ2 Expression Leads to Gonadal Dysfunction

J. Rehg, Yong-mei Zhang, S. Jackowski, 2004, Molecular and Cellular Biology.

Time dependent changes in the bioenergetics of peripheral blood mononuclear cells: processing time, collection tubes and cryopreservation effects.

R. Frye, S. Rose, Brianna A Werner, 2022, American journal of translational research.

Developmental regression and mitochondrial function in children with autism

R. Frye, A. Zimmerman, S. Connors, 2020, Annals of clinical and translational neurology.

Blood RNA Sequencing Indicates Upregulated BATF2 and LY6E and Downregulated ISG15 and MT2A Expression in Children with Autism Spectrum Disorder

D. Gurwitz, N. Shomron, A. Scheck, 2022, International journal of molecular sciences.

PPAR (cid:2) controls the intracellular coenzyme A concentration via regulation of PANK1 (cid:2) gene expression 1

K. Murti, S. Jackowski, Gayathri Ramaswamy, 2004 .

Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome

P. Bork, R. Spritz, G. Duyk, 1996, Nature Genetics.

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

R. Spritz, Koji Suzuki, H. Miyajima, 2002, American journal of medical genetics.

Role of a Proline Insertion in the Insulin Promoter Factor 1 (IPF1) Gene in African Americans With Type 2 Diabetes

D. Bowden, B. Freedman, A. Shuldiner, 2006, Diabetes.

Insulin Promoter Factor 1 variation is associated with type 2 diabetes in African Americans

S. Elbein, M. Karim, Xiaoqin Wang, 2005, BMC Medical Genetics.

Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis

A. Scheck, R. Frye, Alison L Lane, 2022, Journal of personalized medicine.

Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects

M. Cleves, S. Chowdhury, S. Macleod, 2011, PloS one.

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

H. Tonoki, H. Mitsubuchi, K. Ohta, 1996, Nature Genetics.

Variation Within the Gene Encoding the Upstream Stimulatory Factor 1 Does Not Influence Susceptibility to Type 2 Diabetes in Samples From Populations With Replicated Evidence of Linkage to Chromosome 1q

Philippe Froguel, Mark Walker, Mark I McCarthy, 2006, Diabetes.

Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor

Y. Indo, I. Matsuda, S. Mardy, 1997, Japanese Journal of Human Genetics.

The murine pantothenate kinase (Pank1) gene encodes two differentially regulated pantothenate kinase isozymes.

C. Rock, Yong-mei Zhang, S. Jackowski, 2002, Gene.

Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder

K. Kissa, V. Racine, R. Frye, 2021, Translational Psychiatry.

Pantothenate Kinase Regulation of the Intracellular Concentration of Coenzyme A*

C. Rock, S. Jackowski, R. B. Calder, 2000, The Journal of Biological Chemistry.

Mitochondrial Fatty Acid β-Oxidation and Resveratrol Effect in Fibroblasts from Patients with Autism Spectrum Disorder

A. Casabona, R. Frye, L. Delhey, 2021, Journal of personalized medicine.

Analysis of coding variants in the betacellulin gene in type 2 diabetes and insulin secretion in African American subjects

K. Silver, W. Chu, S. Elbein, 2006, BMC Medical Genetics.

Human ESP1/CRP2, a member of the LIM domain protein family: characterization of the cDNA and assignment of the gene locus to chromosome 14q32.3.

N. Niikawa, K. Ohta, Y. Indo, 1996, Genomics.

Analysis of FOXO1A as a candidate gene for type 2 diabetes.

S. Elbein, M. Karim, Xiaoqin Wang, 2006, Molecular genetics and metabolism.

PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.

K. Murti, S. Jackowski, Gayathri Ramaswamy, 2004, Journal of lipid research.