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Book ; Online ; E-Book: CHARGE Syndrome

Hartshorne, Timothy S. / Hefner, Margaret A. / Blake, Kim D.

2021

Author's details	Timothy S. Harthorne, Margaret A. Hefner, Kim D. Blake
Keywords	Electronic books
Language	English
Size	1 Online-Ressource (xxvi, 528 Seiten)
Edition	Second edition
Publisher	Plural Publishing
Publishing place	San Diego
Publishing country	United States
Document type	Book ; Online ; E-Book
Note	Description based on publisher supplied metadata and other sources
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT020708987
ISBN	978-1-63550-657-0 ; 9781635502909 ; 1-63550-657-3 ; 163550290X
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Catalytic Antibody Blunts Carfentanil-Induced Respiratory Depression.

Lin, Mingliang / Eubanks, Lisa M / Karadkhelkar, Nishant M / Blake, Steven / Janda, Kim D

ACS pharmacology & translational science

2023 Volume 6, Issue 5, Page(s) 802–811

Abstract: Carfentanil, the most potent of the fentanyl analogues, is at the forefront of synthetic opioid-related deaths, second to fentanyl. Moreover, the administration of the opioid receptor antagonist naloxone has proven inadequate for an increasing number of ... ...

Abstract	Carfentanil, the most potent of the fentanyl analogues, is at the forefront of synthetic opioid-related deaths, second to fentanyl. Moreover, the administration of the opioid receptor antagonist naloxone has proven inadequate for an increasing number of opioid-related conditions, often requiring higher/additional doses to be effective, as such interest in alternative strategies to combat more potent synthetic opioids has intensified. Increasing drug metabolism would be one strategy to detoxify carfentanil; however, carfentanil's major metabolic pathways involve
Language	English
Publishing date	2023-04-17
Publishing country	United States
Document type	Journal Article
ISSN	2575-9108
ISSN (online)	2575-9108
DOI	10.1021/acsptsci.3c00031
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Pushed to extremes: distinct effects of high temperature versus pressure on the structure of STEP.

Guerrero, Liliana / Ebrahim, Ali / Riley, Blake T / Kim, Minyoung / Huang, Qingqiu / Finke, Aaron D / Keedy, Daniel A

Communications biology

2024 Volume 7, Issue 1, Page(s) 59

Abstract: Protein function hinges on small shifts of three-dimensional structure. Elevating temperature or pressure may provide experimentally accessible insights into such shifts, but the effects of these distinct perturbations on protein structures have not been ...

Abstract	Protein function hinges on small shifts of three-dimensional structure. Elevating temperature or pressure may provide experimentally accessible insights into such shifts, but the effects of these distinct perturbations on protein structures have not been compared in atomic detail. To quantitatively explore these two axes, we report the first pair of structures at physiological temperature versus. high pressure for the same protein, STEP (PTPN5). We show that these perturbations have distinct and surprising effects on protein volume, patterns of ordered solvent, and local backbone and side-chain conformations. This includes interactions between key catalytic loops only at physiological temperature, and a distinct conformational ensemble for another active-site loop only at high pressure. Strikingly, in torsional space, physiological temperature shifts STEP toward previously reported active-like states, while high pressure shifts it toward a previously uncharted region. Altogether, our work indicates that temperature and pressure are complementary, powerful, fundamental macromolecular perturbations.
MeSH term(s)	Temperature ; Models, Molecular ; Proteins/chemistry ; Molecular Conformation
Chemical Substances	Proteins
Language	English
Publishing date	2024-01-12
Publishing country	England
Document type	Journal Article
ISSN	2399-3642
ISSN (online)	2399-3642
DOI	10.1038/s42003-023-05609-0
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Article ; Online: Pushed to extremes

Liliana Guerrero / Ali Ebrahim / Blake T. Riley / Minyoung Kim / Qingqiu Huang / Aaron D. Finke / Daniel A. Keedy

Communications Biology, Vol 7, Iss 1, Pp 1-

distinct effects of high temperature versus pressure on the structure of STEP

2024 Volume 13

Abstract: Abstract Protein function hinges on small shifts of three-dimensional structure. Elevating temperature or pressure may provide experimentally accessible insights into such shifts, but the effects of these distinct perturbations on protein structures have ...

Abstract	Abstract Protein function hinges on small shifts of three-dimensional structure. Elevating temperature or pressure may provide experimentally accessible insights into such shifts, but the effects of these distinct perturbations on protein structures have not been compared in atomic detail. To quantitatively explore these two axes, we report the first pair of structures at physiological temperature versus. high pressure for the same protein, STEP (PTPN5). We show that these perturbations have distinct and surprising effects on protein volume, patterns of ordered solvent, and local backbone and side-chain conformations. This includes interactions between key catalytic loops only at physiological temperature, and a distinct conformational ensemble for another active-site loop only at high pressure. Strikingly, in torsional space, physiological temperature shifts STEP toward previously reported active-like states, while high pressure shifts it toward a previously uncharted region. Altogether, our work indicates that temperature and pressure are complementary, powerful, fundamental macromolecular perturbations.
Keywords	Biology (General) ; QH301-705.5
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Genome-scale and pathway engineering for the sustainable aviation fuel precursor isoprenol production in Pseudomonas putida.

Banerjee, Deepanwita / Yunus, Ian S / Wang, Xi / Kim, Jinho / Srinivasan, Aparajitha / Menchavez, Russel / Chen, Yan / Gin, Jennifer W / Petzold, Christopher J / Martin, Hector Garcia / Magnuson, Jon K / Adams, Paul D / Simmons, Blake A / Mukhopadhyay, Aindrila / Kim, Joonhoon / Lee, Taek Soon

Metabolic engineering

2024 Volume 82, Page(s) 157–170

Abstract: Sustainable aviation fuel (SAF) will significantly impact global warming in the aviation sector, and important SAF targets are emerging. Isoprenol is a precursor for a promising SAF compound DMCO (1,4-dimethylcyclooctane) and has been produced in several ...

Abstract	Sustainable aviation fuel (SAF) will significantly impact global warming in the aviation sector, and important SAF targets are emerging. Isoprenol is a precursor for a promising SAF compound DMCO (1,4-dimethylcyclooctane) and has been produced in several engineered microorganisms. Recently, Pseudomonas putida has gained interest as a future host for isoprenol bioproduction as it can utilize carbon sources from inexpensive plant biomass. Here, we engineer metabolically versatile host P. putida for isoprenol production. We employ two computational modeling approaches (Bilevel optimization and Constrained Minimal Cut Sets) to predict gene knockout targets and optimize the "IPP-bypass" pathway in P. putida to maximize isoprenol production. Altogether, the highest isoprenol production titer from P. putida was achieved at 3.5 g/L under fed-batch conditions. This combination of computational modeling and strain engineering on P. putida for an advanced biofuels production has vital significance in enabling a bioproduction process that can use renewable carbon streams.
MeSH term(s)	Pseudomonas putida/genetics ; Pseudomonas putida/metabolism ; Carbon/metabolism ; Metabolic Engineering
Chemical Substances	Carbon (7440-44-0)
Language	English
Publishing date	2024-02-16
Publishing country	Belgium
Document type	Journal Article
ZDB-ID	1470383-x
ISSN	1096-7184 ; 1096-7176
ISSN (online)	1096-7184
ISSN	1096-7176
DOI	10.1016/j.ymben.2024.02.004
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Article ; Online: New Feeding Assessment Scale for individuals with genetic syndromes: Validity and reliability in the CHARGE syndrome population.

Hudson, Alexandra S / Stratton-Gadke, Kasee / Hatchette, Jill / Blake, Kim D

Journal of paediatrics and child health

2021 Volume 57, Issue 8, Page(s) 1234–1243

Abstract: Aim: To develop a feeding scale for parents/care givers of individuals of all ages with genetic syndromes experiencing extensive feeding and swallowing problems. Second, to assess its validity and reliability in CHARGE syndrome.: Methods: The new ... ...

Abstract	Aim: To develop a feeding scale for parents/care givers of individuals of all ages with genetic syndromes experiencing extensive feeding and swallowing problems. Second, to assess its validity and reliability in CHARGE syndrome. Methods: The new Feeding Assessment Scale (FAS) was adapted from a scale for children who need prolonged tube feeding (Paediatric Assessment Scale for Severe Feeding Problems, PASSFP). Ten parents piloted the new scale before it was sent out with the PASSFP and feeding history questions. A subset completed the new scale again 4-8 weeks later. Results: One hundred parents of individuals with CHARGE syndrome participated from around the world. The new scale had good construct validity, with a significant effect for an increased number of feeding risk factors having higher scale scores (P < 0.001). Face validity was high, as scores significantly differed between individuals whose parents identified their feeding difficulties as very mild, mild, moderate, severe and very severe (P < 0.001). Test-retest reliability (r = 0.94, P < 0.001) and internal consistency (Cronbach's alpha 0.91) were both high. There was significant convergent validity between the new scale and the PASSFP (r = -0.79, P < 0.001). Conclusions: This new tool is reliable and valid for parents/care givers of individuals with CHARGE syndrome. It can be used to assess the current severity of feeding difficulties and to track progress before and after treatment. It expands upon previous existing tools in that it can be used in both individuals who are not tube fed, as well as in those who are, as well as across the life-span.
MeSH term(s)	CHARGE Syndrome/diagnosis ; CHARGE Syndrome/genetics ; Caregivers ; Child ; Humans ; Parents ; Psychometrics ; Reproducibility of Results ; Surveys and Questionnaires
Language	English
Publishing date	2021-03-08
Publishing country	Australia
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1024476-1
ISSN	1440-1754 ; 1034-4810
ISSN (online)	1440-1754
ISSN	1034-4810
DOI	10.1111/jpc.15434
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Article ; Online: Quantitative comparison of manuka and clover honey proteomes with royal jelly.

Paget, Blake W / Kleffmann, Torsten / Whiteman, Kim E / Thomas, Mark F / McMahon, Chris D

PloS one

2023 Volume 18, Issue 2, Page(s) e0272898

Abstract: Royal jelly and honey are two substances produced successively by the worker bee caste. Modern proteomics approaches have been used to explore the protein component of each substance independently, but to date none have quantitatively compared the ... ...

Abstract	Royal jelly and honey are two substances produced successively by the worker bee caste. Modern proteomics approaches have been used to explore the protein component of each substance independently, but to date none have quantitatively compared the protein profile of honey and royal jelly directly. Sequential window acquisition of all theoretical fragment-ion spectra mass spectrometry (SWATH-MS) was used to compare protein quantities of bee origin in mānuka and clover honey to royal jelly. Two analysis techniques identified 76 proteins in total. Peptide intensity was directly compared for a subset of 31 proteins that were identified with high confidence, and the relative changes in protein abundance were compared between each honey type and royal jelly. Major Royal Jelly Proteins (MRJPs) had similar profiles in both honeys, except MRJP6, which was significantly more abundant in clover honey. Proteins involved in nectar metabolism were more abundant in honey than in royal jelly as expected. However, the trend revealed a potential catalytic role for MRJP6 in clover honey and a nectar- or honey-specific role for uncharacterised protein LOC408608. The abundance of MRJP6 in mānuka honey was equivalent to royal jelly suggesting a potential effect of nectar type on expression of this protein. Data are available via ProteomeXchange with identifier PXD038889.
MeSH term(s)	Bees ; Animals ; Honey/analysis ; Proteome ; Plant Nectar ; Fatty Acids/analysis
Chemical Substances	royal jelly (L497I37F0C) ; Proteome ; Plant Nectar ; Fatty Acids
Language	English
Publishing date	2023-02-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0272898
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Pushed to extremes: distinct effects of high temperature vs. pressure on the structure of an atypical phosphatase.

Guerrero, Liliana / Ebrahim, Ali / Riley, Blake T / Kim, Minyoung / Huang, Qingqiu / Finke, Aaron D / Keedy, Daniel A

bioRxiv : the preprint server for biology

2023

Abstract	Protein function hinges on small shifts of three-dimensional structure. Elevating temperature or pressure may provide experimentally accessible insights into such shifts, but the effects of these distinct perturbations on protein structures have not been compared in atomic detail. To quantitatively explore these two axes, we report the first pair of structures at physiological temperature vs. high pressure for the same protein, STEP (PTPN5). We show that these perturbations have distinct and surprising effects on protein volume, patterns of ordered solvent, and local backbone and side-chain conformations. This includes novel interactions between key catalytic loops only at physiological temperature, and a distinct conformational ensemble for another active-site loop only at high pressure. Strikingly, in torsional space, physiological temperature shifts STEP toward previously reported active-like states, while high pressure shifts it toward a previously uncharted region. Together, our work argues that temperature and pressure are complementary, powerful, fundamental macromolecular perturbations.
Language	English
Publishing date	2023-05-03
Publishing country	United States
Document type	Preprint
DOI	10.1101/2023.05.02.538097
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Profiles of decent work: General trends and group differences.

Kim, Haram J / Duffy, Ryan D / Allan, Blake A

Journal of counseling psychology

2020 Volume 68, Issue 1, Page(s) 54–66

Abstract: ... c) indecent work, (d) only health care, and (e) decent work. Subsequent analyses comparing ...

Abstract	Recent trends in the labor market-marked by instability and insecurity-have further ignited a discourse on the significance of decent work in people's lives. Scholars have mostly studied the multidimensional decent work construct using the composite scores of the Decent Work Scale (DWS; Duffy et al., 2017). However, there may be different combinations of decent work beyond the simple continuum of composite scores. Thus, we employed latent profile analysis to identify profiles of decent work using the 5 subscales of the DWS as indicators. As a result, 5 different groups with distinct profiles emerged: (a) average, (b) low health care, (c) indecent work, (d) only health care, and (e) decent work. Subsequent analyses comparing each group on demographics (gender, employment, education), theoretical predictors (economic constraints, marginalization, work volition), and theoretical outcomes (job satisfaction, life satisfaction) revealed notable differences across the 5 groups. Implications, limitations, and future directions of the results are discussed. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
MeSH term(s)	Adolescent ; Adult ; Aged ; Databases, Factual/trends ; Employment/economics ; Employment/psychology ; Employment/trends ; Female ; Humans ; Job Satisfaction ; Longitudinal Studies ; Male ; Middle Aged ; Occupations/economics ; Occupations/trends ; Volition/physiology ; Young Adult
Language	English
Publishing date	2020-03-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2066555-6
ISSN	1939-2168 ; 0022-0167
ISSN (online)	1939-2168
ISSN	0022-0167
DOI	10.1037/cou0000434
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Article ; Online: Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.

Blake, Kim D / Hudson, Alexandra S

American journal of medical genetics. Part C, Seminars in medical genetics

2017 Volume 175, Issue 4, Page(s) 496–506

Abstract: CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, ...

Abstract	CHARGE syndrome is an autosomal dominant genetic condition that is primarily diagnosed based on clinical features, with genetic testing available for confirmation. The CHARGE mnemonic stands for some of the common characteristics: coloboma, heart defects, atresia/stenosis of the choanae, retardation of growth/development, genitourinary anomalies, and ear abnormalities (CHARGE). However, many of the common clinical features are not captured by this mnemonic, including cranial nerve dysfunction, considered by some to be one of the major diagnostic criteria. Over 90% of individuals experience feeding and gastrointestinal dysfunction, which carries great morbidity and mortality. The aim of this review is to examine the nature of gastrointestinal (GI) symptoms and feeding difficulties in CHARGE syndrome, focusing on their underlying pathology, associated investigations, and available treatment options. We also provide information on available tools (for parents, clinicians, and researchers) that are important additions to the lifelong healthcare management of every individual with CHARGE syndrome. We review how cranial nerve dysfunction is one of the most important characteristics underlying the pervasive GI and feeding dysfunction, and discuss the need for future research on gut innervation and motility in this genetic disorder.
MeSH term(s)	Abnormalities, Multiple/genetics ; Abnormalities, Multiple/physiopathology ; Animals ; CHARGE Syndrome/diagnosis ; CHARGE Syndrome/etiology ; CHARGE Syndrome/therapy ; Cranial Nerve Diseases/genetics ; Cranial Nerve Diseases/physiopathology ; Feeding and Eating Disorders/etiology ; Female ; Gastrointestinal Motility/genetics ; Gastrointestinal Tract/abnormalities ; Gastrointestinal Tract/physiopathology ; Phenotype
Language	English
Publishing date	2017
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31586
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