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  1. Article ; Online: Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

    Abul-Husn, Noura S / Manickam, Kandamurugu / Jones, Laney K / Wright, Eric A / Hartzel, Dustin N / Gonzaga-Jauregui, Claudia / O'Dushlaine, Colm / Leader, Joseph B / Lester Kirchner, H / Lindbuchler, D'Andra M / Barr, Marci L / Giovanni, Monica A / Ritchie, Marylyn D / Overton, John D / Reid, Jeffrey G / Metpally, Raghu P R / Wardeh, Amr H / Borecki, Ingrid B / Yancopoulos, George D /
    Baras, Aris / Shuldiner, Alan R / Gottesman, Omri / Ledbetter, David H / Carey, David J / Dewey, Frederick E / Murray, Michael F

    Science (New York, N.Y.)

    2016  Volume 354, Issue 6319

    Abstract: Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of 50,726 individuals were used to assess the prevalence and clinical impact of FH-associated ... ...

    Abstract Familial hypercholesterolemia (FH) remains underdiagnosed despite widespread cholesterol screening. Exome sequencing and electronic health record (EHR) data of 50,726 individuals were used to assess the prevalence and clinical impact of FH-associated genomic variants in the Geisinger Health System. The estimated FH prevalence was 1:256 in unselected participants and 1:118 in participants ascertained via the cardiac catheterization laboratory. FH variant carriers had significantly increased risk of coronary artery disease. Only 24% of carriers met EHR-based presequencing criteria for probable or definite FH diagnosis. Active statin use was identified in 58% of carriers; 46% of statin-treated carriers had a low-density lipoprotein cholesterol level below 100 mg/dl. Thus, we find that genomic screening can prompt the diagnosis of FH patients, most of whom are receiving inadequate lipid-lowering therapy.
    MeSH term(s) Coloring Agents/therapeutic use ; Coronary Artery Disease/epidemiology ; Delivery of Health Care ; Drug Utilization/statistics & numerical data ; Electronic Health Records ; Exome/genetics ; Genetic Testing ; Heterozygote ; Humans ; Hyperlipoproteinemia Type II/diagnosis ; Hyperlipoproteinemia Type II/epidemiology ; Hyperlipoproteinemia Type II/genetics ; Lipoproteins, LDL/blood ; Prevalence ; United States/epidemiology
    Chemical Substances Coloring Agents ; Lipoproteins, LDL
    Language English
    Publishing date 2016-12-23
    Publishing country United States
    Document type Journal Article
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.aaf7000
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  2. Article ; Online: Traveling with Terri: bacterial communities.

    Gottesman, Susan

    Genes & development

    2023  Volume 37, Issue 1-2, Page(s) 27–29

    Language English
    Publishing date 2023-04-16
    Publishing country United States
    Document type Journal Article
    ZDB-ID 806684-x
    ISSN 1549-5477 ; 0890-9369
    ISSN (online) 1549-5477
    ISSN 0890-9369
    DOI 10.1101/gad.350469.123
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  3. Article ; Online: Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease

    Julie E. Horowitz / Neil Warner / Jeffrey Staples / Eileen Crowley / Nehal Gosalia / Ryan Murchie / Cristopher Van Hout / Karoline Fiedler / Gabriel Welch / Alejandra Klauer King / Jeffrey G. Reid / John D. Overton / Aris Baras / Alan R. Shuldiner / Anne Griffiths / Omri Gottesman / Aleixo M. Muise / Claudia Gonzaga-Jauregui

    Scientific Reports, Vol 11, Iss 1, Pp 1-

    2021  Volume 10

    Abstract: Abstract Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD ... susceptibility to Crohn’s Disease (CD), our data formally demonstrate that recessive inheritance of NOD2 alleles ... onset Crohn’s Disease. ...

    Abstract Abstract Inflammatory bowel disease (IBD), clinically defined as Crohn’s disease (CD), ulcerative colitis (UC), or IBD-unclassified, results in chronic inflammation of the gastrointestinal tract in genetically susceptible hosts. Pediatric onset IBD represents ≥ 25% of all IBD diagnoses and often presents with intestinal stricturing, perianal disease, and failed response to conventional treatments. NOD2 was the first and is the most replicated locus associated with adult IBD, to date. However, its role in pediatric onset IBD is not well understood. We performed whole-exome sequencing on a cohort of 1,183 patients with pediatric onset IBD (ages 0–18.5 years). We identified 92 probands with biallelic rare and low frequency NOD2 variants accounting for approximately 8% of our cohort, suggesting a Mendelian inheritance pattern of disease. Additionally, we investigated the contribution of recessive inheritance of NOD2 alleles in adult IBD patients from a large clinical population cohort. We found that recessive inheritance of NOD2 variants explains ~ 7% of cases in this adult IBD cohort, including ~ 10% of CD cases, confirming the observations from our pediatric IBD cohort. Exploration of EHR data showed that several of these adult IBD patients obtained their initial IBD diagnosis before 18 years of age, consistent with early onset disease. While it has been previously reported that carriers of more than one NOD2 risk alleles have increased susceptibility to Crohn’s Disease (CD), our data formally demonstrate that recessive inheritance of NOD2 alleles is a mechanistic driver of early onset IBD, specifically CD, likely due to loss of NOD2 protein function. Collectively, our findings show that recessive inheritance of rare and low frequency deleterious NOD2 variants account for 7–10% of CD cases and implicate NOD2 as a Mendelian disease gene for early onset Crohn’s Disease.
    Keywords Medicine ; R ; Science ; Q
    Subject code 610
    Language English
    Publishing date 2021-03-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Introduction.

    Gottesman, Susan

    Annual review of microbiology

    2022  Volume 76, Page(s) v

    Language English
    Publishing date 2022-09-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207931-8
    ISSN 1545-3251 ; 0066-4227
    ISSN (online) 1545-3251
    ISSN 0066-4227
    DOI 10.1146/annurev-mi-76-062422-100001
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  5. Article: The differences between ICL repair during and outside of S phase.

    Williams, Hannah L / Gottesman, Max E / Gautier, Jean

    Trends in biochemical sciences

    2013  Volume 38, Issue 8, Page(s) 386–393

    Abstract: ... cancer chemotherapeutic drugs. ICLs are repaired during and outside of S phase by pathways with overlapping as well as distinct ...

    Abstract DNA interstrand crosslinks (ICLs) are complex lesions that block essential DNA transactions including DNA replication, recombination, and RNA transcription. Naturally occurring ICLs are rare, yet these lesions are the major cause of toxicity following treatment with several classes of crosslinking cancer chemotherapeutic drugs. ICLs are repaired during and outside of S phase by pathways with overlapping as well as distinct features. Here, we discuss some recent insights into the mechanisms of replication-dependent and replication-independent repair of ICLs with special emphasis on the differences between these repair pathways.
    MeSH term(s) Animals ; Antineoplastic Agents/adverse effects ; Cell Cycle ; Cross-Linking Reagents/adverse effects ; Cross-Linking Reagents/toxicity ; DNA Damage ; DNA Repair ; DNA Repair Enzymes/metabolism ; Humans ; Models, Biological ; Recombinational DNA Repair ; S Phase
    Chemical Substances Antineoplastic Agents ; Cross-Linking Reagents ; DNA Repair Enzymes (EC 6.5.1.-)
    Language English
    Publishing date 2013-07-03
    Publishing country England
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 194216-5
    ISSN 1362-4326 ; 0968-0004 ; 0376-5067
    ISSN (online) 1362-4326
    ISSN 0968-0004 ; 0376-5067
    DOI 10.1016/j.tibs.2013.05.004
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  6. Article ; Online: Racial Differences in Palliative Care Use After Stroke in Majority-White, Minority-Serving, and Racially Integrated U.S. Hospitals.

    Faigle, Roland / Ziai, Wendy C / Urrutia, Victor C / Cooper, Lisa A / Gottesman, Rebecca F

    Critical care medicine

    2017  Volume 45, Issue 12, Page(s) 2046–2054

    Abstract: Objectives: Racial/ethnic differences in palliative care resource use after stroke have been recognized, but it is unclear whether patient or hospital characteristics drive this disparity. We sought to determine whether palliative care use after ... ...

    Abstract Objectives: Racial/ethnic differences in palliative care resource use after stroke have been recognized, but it is unclear whether patient or hospital characteristics drive this disparity. We sought to determine whether palliative care use after intracerebral hemorrhage and ischemic stroke differs between hospitals serving varying proportions of minority patients.
    Design: Population-based cross-sectional study.
    Setting: Inpatient hospital admissions from the Nationwide Inpatient Sample between 2007 and 2011.
    Patients: A total of 46,735 intracerebral hemorrhage and 331,521 ischemic stroke cases.
    Interventions: Palliative care use.
    Measurements and main results: Intracerebral hemorrhage and ischemic stroke admissions were identified from the Nationwide Inpatient Sample between 2007 and 2011. Hospitals were categorized based on the percentage of ethnic minority stroke patients (< 25% minorities ["white hospitals"], 25-50% minorities ["mixed hospitals"], or > 50% minorities ["minority hospitals"]). Logistic regression was used to evaluate the association between race/ethnicity and palliative care use within and between the different hospital strata. Stroke patients receiving care in minority hospitals had lower odds of palliative care compared with those treated in white hospitals, regardless of individual patient race/ethnicity (adjusted odds ratio, 0.65; 95% CI, 0.50-0.84 for intracerebral hemorrhage and odds ratio, 0.62; 95% CI, 0.50-0.77 for ischemic stroke). Ethnic minorities had a lower likelihood of receiving palliative care compared with whites in any hospital stratum, but the odds of palliative care for both white and minority intracerebral hemorrhage patients was lower in minority compared with white hospitals (odds ratio, 0.66; 95% CI, 0.50-0.87 for white and odds ratio, 0.64; 95% CI, 0.46-0.88 for minority patients). Similar results were observed in ischemic stroke.
    Conclusions: The odds of receiving palliative care for both white and minority stroke patients is lower in minority compared with white hospitals, suggesting system-level factors as a major contributor to explain race disparities in palliative care use after stroke.
    Language English
    Publishing date 2017-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 197890-1
    ISSN 1530-0293 ; 0090-3493
    ISSN (online) 1530-0293
    ISSN 0090-3493
    DOI 10.1097/CCM.0000000000002762
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  7. Article ; Online: Diagnosing X-Linked Hypophosphatemia in Children: The Missing Element.

    Gottesman, Gary S

    Clinical pediatrics

    2022  Volume 62, Issue 1, Page(s) 81

    MeSH term(s) Child ; Humans ; Familial Hypophosphatemic Rickets/complications ; Familial Hypophosphatemic Rickets/diagnosis ; Hypophosphatemia/diagnosis ; Hypophosphatemia/etiology
    Language English
    Publishing date 2022-08-17
    Publishing country United States
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 207678-0
    ISSN 1938-2707 ; 0009-9228
    ISSN (online) 1938-2707
    ISSN 0009-9228
    DOI 10.1177/00099228221111235
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  8. Article ; Online: Introduction.

    Gottesman, Susan

    Annual review of microbiology

    2021  Volume 75, Page(s) v

    Language English
    Publishing date 2021-10-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207931-8
    ISSN 1545-3251 ; 0066-4227
    ISSN (online) 1545-3251
    ISSN 0066-4227
    DOI 10.1146/annurev-mi-75-072721-100001
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  9. Article ; Online: RpoS and the bacterial general stress response.

    Bouillet, Sophie / Bauer, Taran S / Gottesman, Susan

    Microbiology and molecular biology reviews : MMBR

    2024  Volume 88, Issue 1, Page(s) e0015122

    Abstract: SUMMARYThe general stress response (GSR) is a widespread strategy developed by bacteria to adapt and respond to their changing environments. The GSR is induced by one or multiple simultaneous stresses, as well as during entry into stationary phase and ... ...

    Abstract SUMMARYThe general stress response (GSR) is a widespread strategy developed by bacteria to adapt and respond to their changing environments. The GSR is induced by one or multiple simultaneous stresses, as well as during entry into stationary phase and leads to a global response that protects cells against multiple stresses. The alternative sigma factor RpoS is the central GSR regulator in
    MeSH term(s) Escherichia coli/genetics ; Escherichia coli Proteins/metabolism ; Bacterial Proteins/metabolism ; Sigma Factor/genetics ; Proteolysis ; Gene Expression Regulation, Bacterial
    Chemical Substances Escherichia coli Proteins ; Bacterial Proteins ; Sigma Factor
    Language English
    Publishing date 2024-02-27
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 1376131-6
    ISSN 1098-5557 ; 1070-6275 ; 1092-2172
    ISSN (online) 1098-5557 ; 1070-6275
    ISSN 1092-2172
    DOI 10.1128/mmbr.00151-22
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  10. Article ; Online: Introduction.

    Gottesman, Susan

    Annual review of microbiology

    2020  Volume 74, Page(s) v

    MeSH term(s) COVID-19 ; Communicable Disease Control ; Humans ; Research
    Language English
    Publishing date 2020-06-01
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207931-8
    ISSN 1545-3251 ; 0066-4227
    ISSN (online) 1545-3251
    ISSN 0066-4227
    DOI 10.1146/annurev-mi-74-080620-100001
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