Professor of , University Tex SW Dallas
Medical Genetics
Dr. Helen H. Hobbs, MD
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Helen Hobbs practices Medical Genetics. He attended Case Western Reserve University School of Medicine. He received 4 awards: "Regional Top Doctor", "Elected Member", "Whos Who in Medicine and Healthcare" and "Investigator". Helen Hobbs is a published doctor. He published 80 publications, including: 'Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but not Secretion of Very Low Density Lipoproteins.'
Publications
- Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.
- Relative Roles of ABCG5/ABCG8 in Liver and Intestine.
- ANGPTL8/Betatrophin Does Not Control Pancreatic Beta Cell Expansion.
- APOC3, Coronary Disease, and Complexities of Mendelian Randomization.
- Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis.
- Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.
- Mice lacking ANGPTL8 (Betatrophin) manifest disrupted triglyceride metabolism without impaired glucose homeostasis.
- Genetics. Simple genetics for a complex disease.
- Atypical angiopoietin-like protein that regulates ANGPTL3.
- Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.
- Deletion of GPIHBP1 causing severe chylomicronemia.
- Genetic variant in PNPLA3 associated with nonalcoholic fatty liver disease in China.
- Expression and characterization of a PNPLA3 isoform (I148M) associated with nonalcoholic fatty liver disease.
- Human fatty liver disease: old questions and new insights.
- Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in NPC1L1.
- Sequences in the nonconsensus nucleotide-binding domain of ABCG5/ABCG8 required for sterol transport.
- Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance.
- Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
- Patatin-like phospholipase domain-containing 3 and the pathogenesis and progression of pediatric nonalcoholic fatty liver disease.
- A feed-forward loop amplifies nutritional regulation of PNPLA3.
- A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis.
- Indices of cholesterol metabolism and relative responsiveness to ezetimibe and simvastatin.
- Genetic and metabolic determinants of plasma PCSK9 levels.
- Genetic variation in ANGPTL4 provides insights into protein processing and function.
- PCSK9: a convertase that coordinates LDL catabolism.
- Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.
- Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.
- Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor.
- Purification and reconstitution of sterol transfer by native mouse ABCG5 and ABCG8.
- Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and ...
- A common allele on chromosome 9 associated with coronary heart disease.
- Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.
- Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.
- No association between polymorphism in PEMT (V175M) and hepatic triglyceride content in the Dallas Heart Study.
- Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands.
- Sterol transfer by ABCG5 and ABCG8: in vitro assay and reconstitution.
- Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.
- Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.
- A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
- Functional asymmetry of nucleotide-binding domains in ABCG5 and ABCG8.
- Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.
- The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits.
- Dual roles for cholesterol in mammalian cells.
- A phylogenetic survey of biliary lipids in vertebrates.
- Ezetimibe normalizes metabolic defects in mice lacking ABCG5 and ABCG8.
- ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile.
- Lipoprotein(a) and apolipoprotein(a) isoforms: no association with coronary artery calcification in the Dallas Heart Study.
- Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion.
- Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population.
- Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.
- No association between plasma levels of plant sterols and atherosclerosis in mice and men.
- Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity.
- Disruption of cholesterol homeostasis by plant sterols.
- The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.
- Multiple rare alleles contribute to low plasma levels of HDL cholesterol.
- High-level expression of ABCG5 and ABCG8 attenuates diet-induced hypercholesterolemia and atherosclerosis in Ldlr-/- mice.
- Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
- Selective sterol accumulation in ABCG5/ABCG8-deficient mice.
- ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion.
- Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia.
- Monogenic hypercholesterolemia: new insights in pathogenesis and treatment.
- Stimulation of cholesterol excretion by the liver X receptor agonist requires ATP-binding cassette transporters G5 and G8.
- Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.
- ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.
- Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface.
- Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol.
- Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8.
- Referral patterns to renal services: what has changed in the past 4 years?
- Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta.
- Molecular mechanisms of autosomal recessive hypercholesterolemia.
- Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.
- The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health.
- WholePathwayScope: a comprehensive pathway-based analysis tool for high-throughput data.
- Molecular biology of PCSK9: its role in LDL metabolism.
- Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR.
- African Americans and Caucasians have a similar prevalence of coronary calcium in the Dallas Heart Study.
- Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.
- Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
- Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but not Secretion of Very Low Density Lipoproteins.
Schools
Case Western Reserve Univ Sch Of Med
Colum Presbycolumbia University
ParklandU Tex
Conditions Treated
- Hyperlipidemia
Doctors Specialties
- Medical Genetics
Accepted Insurances
- Blue Card PPO
- Blue Choice
- Great West Healthcare-Cigna PPO
- Choice Care PPO
- Preferred PPO
- MultiPlan PPO
- PHCS Network PPO
- Choice Plus POS
- Navigate HMO
- Navigate POS
- Options PPO
Awards
- Regional Top Doctor
- Elected Member
- Whos Who in Medicine and Healthcare
- Investigator
Education
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New York Presbyterian Hospital - Columbia Campus -
Case Western Reserve University School of Medicine
Hospital
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University of Texas Southwestern Medical Center
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