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  1. Article ; Online: Titin-related Cardiomyopathy: Is it a Distinct Disease?

    Santiago, Celine F / Huttner, Inken G / Fatkin, Diane

    Current cardiology reports

    2022  Volume 24, Issue 9, Page(s) 1069–1075

    Abstract: Purpose of review: Truncating TTN variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM), but the underlying mechanisms are incompletely understood and effective therapeutic strategies are lacking. Here we review recent data ... ...

    Abstract Purpose of review: Truncating TTN variants (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM), but the underlying mechanisms are incompletely understood and effective therapeutic strategies are lacking. Here we review recent data that shed new light on the functional consequences of TTNtv and how these effects may vary with mutation location.
    Recent findings: Whether TTNtv act by haploinsufficiency or dominant negative effects has been hotly debated. New evidence now implicates both mechanisms in TTNtv-related DCM, showing reduced titin content and persistent truncated titin that may be incorporated into protein aggregates. The extent to which aggregate formation and protein quality control defects differ with TTNtv location and contribute to contractile dysfunction is unresolved. TTNtv-associated DCM has a complex etiology that involves varying combinations of wild-type titin deficiency and dominant negative effects of truncated mutant titin. Therapeutic strategies to improve protein handling may be beneficial in some cases.
    MeSH term(s) Cardiomyopathies/genetics ; Cardiomyopathy, Dilated/genetics ; Connectin/genetics ; Connectin/metabolism ; Humans ; Mutation
    Chemical Substances Connectin
    Language English
    Publishing date 2022-06-27
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2055373-0
    ISSN 1534-3170 ; 1523-3782
    ISSN (online) 1534-3170
    ISSN 1523-3782
    DOI 10.1007/s11886-022-01726-0
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5524: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Mechanisms of

    Santiago, Celine F / Huttner, Inken G / Fatkin, Diane

    Journal of cardiovascular development and disease

    2021  Volume 8, Issue 2

    Abstract: Dilated cardiomyopathy (DCM) is a common heart muscle disorder characterized by ventricular dilation and contractile dysfunction that is associated with significant morbidity and mortality. New insights into disease mechanisms and strategies for ... ...

    Abstract Dilated cardiomyopathy (DCM) is a common heart muscle disorder characterized by ventricular dilation and contractile dysfunction that is associated with significant morbidity and mortality. New insights into disease mechanisms and strategies for treatment and prevention are urgently needed. Truncating variants in the
    Language English
    Publishing date 2021-01-25
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2777082-5
    ISSN 2308-3425 ; 2308-3425
    ISSN (online) 2308-3425
    ISSN 2308-3425
    DOI 10.3390/jcdd8020010
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  3. Article ; Online: Regional lymph node evaluation in pediatric conventional melanoma subtype: a single-center 10-year review.

    Sutthatarn, Pattamon / Davidoff, Andrew M / Bahrami, Armita / Richard, Celine / Shalini, Bhatia / Santiago, Teresa C / Shulkin, Barry L / Pappo, Alberto S / Abdelhafeez, Abdelhafeez

    Pediatric surgery international

    2024  Volume 40, Issue 1, Page(s) 68

    Abstract: Purpose: To assess the prognostic and therapeutic significance of sentinel lymph node biopsy (SLNB) and completion lymph node dissection (CLND) in pediatric conventional melanoma (CM), while evaluating potential predictive factors for outcomes.: ... ...

    Abstract Purpose: To assess the prognostic and therapeutic significance of sentinel lymph node biopsy (SLNB) and completion lymph node dissection (CLND) in pediatric conventional melanoma (CM), while evaluating potential predictive factors for outcomes.
    Methods: We conducted a retrospective analysis of medical records spanning 2009-2020, focusing on patients aged 18 or younger with localized cutaneous conventional melanoma.
    Results: Among the 33 patients, SLNB detected metastasis in 57.6% of cases, with 52.6% undergoing CLND. Positive SLN patients had higher relapse risk (HR 5.92; 95% CI 1.27-27.7; P = 0.024) but similar overall survival (HR 3.19; 95% CI 0.31-33.1, P = 0.33). No significant differences in disease-free survival (DFS) and OS were found between patients who underwent CLND and those who did not (HR 1.91; 95% CI 0.49-7.43, P = 0.35, and HR 0.52; 95% CI 0.03-8.32, P = 0.64, respectively). Univariate analysis showed age at diagnosis (P = 0.02) correlated with higher recurrence risk, with a 21% hazard increase per additional year of age.
    Conclusions: Positive SLN status and age at diagnosis were associated with worse DFS in CM patients. Our study did not find any prognostic or therapeutic value in CLND for pediatric melanoma. Further multicenter trials are needed to confirm our single-institution experience.
    Level of evidence: Level IV.
    MeSH term(s) Humans ; Child ; Melanoma/surgery ; Retrospective Studies ; Lymph Nodes ; Skin Neoplasms/surgery ; Disease-Free Survival
    Language English
    Publishing date 2024-03-05
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 632773-4
    ISSN 1437-9813 ; 0179-0358
    ISSN (online) 1437-9813
    ISSN 0179-0358
    DOI 10.1007/s00383-024-05646-8
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    Zs.A 2138: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article: Sensory Input, Sex, and Function Shape Hypothalamic Cell Type Development.

    Kaplan, Harris S / Logeman, Brandon L / Zhang, Kai / Santiago, Celine / Sohail, Noor / Naumenko, Serhiy / Ho Sui, Shannan J / Ginty, David D / Ren, Bing / Dulac, Catherine

    bioRxiv : the preprint server for biology

    2024  

    Abstract: Mammalian behavior and physiology undergo dramatic changes in early life. Young animals rely on conspecifics to meet their homeostatic needs, until weaning and puberty initiate nutritional independence and sex-specific social interactions, respectively. ... ...

    Abstract Mammalian behavior and physiology undergo dramatic changes in early life. Young animals rely on conspecifics to meet their homeostatic needs, until weaning and puberty initiate nutritional independence and sex-specific social interactions, respectively. How neuronal populations regulating homeostatic functions and social behaviors develop and mature during these transitions remains unclear. We used paired transcriptomic and chromatin accessibility profiling to examine the developmental trajectories of neuronal populations in the hypothalamic preoptic region, where cell types with key roles in physiological and behavioral control have been identified
    Language English
    Publishing date 2024-01-23
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.01.23.576835
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  5. Article ; Online: The cellular and molecular basis of somatosensory neuron development.

    Meltzer, Shan / Santiago, Celine / Sharma, Nikhil / Ginty, David D

    Neuron

    2021  Volume 109, Issue 23, Page(s) 3736–3757

    Abstract: Primary somatosensory neurons convey salient information about our external environment and internal state to the CNS, allowing us to detect, perceive, and react to a wide range of innocuous and noxious stimuli. Pseudo-unipolar in shape, and among the ... ...

    Abstract Primary somatosensory neurons convey salient information about our external environment and internal state to the CNS, allowing us to detect, perceive, and react to a wide range of innocuous and noxious stimuli. Pseudo-unipolar in shape, and among the largest (longest) cells of most mammals, dorsal root ganglia (DRG) somatosensory neurons have peripheral axons that extend into skin, muscle, viscera, or bone and central axons that innervate the spinal cord and brainstem, where they synaptically engage the central somatosensory circuitry. Here, we review the diversity of mammalian DRG neuron subtypes and the intrinsic and extrinsic mechanisms that control their development. We describe classical and contemporary advances that frame our understanding of DRG neurogenesis, transcriptional specification of DRG neurons, and the establishment of morphological, physiological, and synaptic diversification across somatosensory neuron subtypes.
    MeSH term(s) Animals ; Axons/physiology ; Ganglia, Spinal/physiology ; Mammals ; Neurogenesis/physiology ; Neurons/physiology ; Spinal Cord
    Language English
    Publishing date 2021-09-29
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 808167-0
    ISSN 1097-4199 ; 0896-6273
    ISSN (online) 1097-4199
    ISSN 0896-6273
    DOI 10.1016/j.neuron.2021.09.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2496: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 92: Show issues

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  6. Article ; Online: Loss of Sec-1 Family Domain-Containing 1 (

    Huttner, Inken G / Santiago, Celine F / Jacoby, Arie / Cheng, Delfine / Trivedi, Gunjan / Cull, Stephen / Cvetkovska, Jasmina / Chand, Renee / Berger, Joachim / Currie, Peter D / Smith, Kelly A / Fatkin, Diane

    Journal of cardiovascular development and disease

    2023  Volume 10, Issue 10

    Abstract: Dilated cardiomyopathy (DCM) is a common heart muscle disorder that frequently leads to heart failure, arrhythmias, and death. While DCM is often heritable, disease-causing mutations are identified in only ~30% of cases. In a forward genetic mutagenesis ... ...

    Abstract Dilated cardiomyopathy (DCM) is a common heart muscle disorder that frequently leads to heart failure, arrhythmias, and death. While DCM is often heritable, disease-causing mutations are identified in only ~30% of cases. In a forward genetic mutagenesis screen, we identified a novel zebrafish mutant,
    Language English
    Publishing date 2023-09-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2777082-5
    ISSN 2308-3425 ; 2308-3425
    ISSN (online) 2308-3425
    ISSN 2308-3425
    DOI 10.3390/jcdd10100408
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  7. Article ; Online: Islet Coordinately Regulates Motor Axon Guidance and Dendrite Targeting through the Frazzled/DCC Receptor.

    Santiago, Celine / Bashaw, Greg J

    Cell reports

    2017  Volume 18, Issue 7, Page(s) 1646–1659

    Abstract: Motor neuron axon targeting in the periphery is correlated with the positions of motor neuron inputs in the CNS, but how these processes are coordinated to form a myotopic map remains poorly understood. We show that the LIM homeodomain factor Islet (Isl) ...

    Abstract Motor neuron axon targeting in the periphery is correlated with the positions of motor neuron inputs in the CNS, but how these processes are coordinated to form a myotopic map remains poorly understood. We show that the LIM homeodomain factor Islet (Isl) controls targeting of both axons and dendrites in Drosophila motor neurons through regulation of the Frazzled (Fra)/DCC receptor. Isl is required for fra expression in ventrally projecting motor neurons, and isl and fra mutants have similar axon guidance defects. Single-cell labeling indicates that isl and fra are also required for dendrite targeting in a subset of motor neurons. Finally, overexpression of Fra rescues axon and dendrite targeting defects in isl mutants. These results indicate that Fra acts downstream of Isl in both the periphery and the CNS, demonstrating how a single regulatory relationship is used in multiple cellular compartments to coordinate neural circuit wiring.
    Language English
    Publishing date 2017-02-14
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2017.01.041
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  8. Article ; Online: Corrigendum

    Céline Jacquin / Paloma Merodio Gómez / Vivian Arriaga / Andrea Santiago

    Frontiers in Environmental Science, Vol

    Citizen science interactions with official geospatial information; Case studies from Mexico

    2023  Volume 11

    Keywords citizen science ; crowdsourcing ; Mexico ; 2030 agenda ; geospatial information ; volunteered geographic information (VGI) ; official cartography ; Environmental sciences ; GE1-350
    Language English
    Publishing date 2023-06-01T00:00:00Z
    Publisher Frontiers Media S.A.
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: Citizen science interactions with official geospatial information; Case studies from Mexico

    Céline Jacquin / Paloma Merodio Gómez / Vivian Arriaga / Andrea Santiago

    Frontiers in Environmental Science, Vol

    2023  Volume 10

    Abstract: This paper presents an overview of the integration of participatory processes in the production of official data. Through a series of interviews with strategic stakeholders we identified the key elements to institutionalize citizen science in the ... ...

    Abstract This paper presents an overview of the integration of participatory processes in the production of official data. Through a series of interviews with strategic stakeholders we identified the key elements to institutionalize citizen science in the production of geospatial information. This article discusses practical contexts of uses of data produced or complemented by citizens in Mexico. We analyze institutional processes that facilitates or make difficult the integration into official mechanisms for generating more accurate cartographic information in various institutions, focusing on its possible adoption, in particular by the National Institute of Statistics and Geography (INEGI) of Mexico. Resources, data integration models, workflows, and an organizational structure are needed to benefit from citizen science. We find that the adoption of citizen science within an organization is subject to a well-defined and structured interest driven by leadership and implemented collectively. This presents a paradigm shift in obtaining information, citizen science as official data through concrete and functional information products will allow end users to benefit from timely and accurate data. The purpose of this article is then to generate organizational knowledge on how to use citizen science in public institutions, with long-term perspective, to mediate the lack of current and accurate spatial data and participate in social innovation.
    Keywords citizen science ; crowdsourcing ; Mexico ; 2030 agenda ; geospatial information ; volunteered geographic information (VGI) ; Environmental sciences ; GE1-350
    Subject code 306
    Language English
    Publishing date 2023-02-01T00:00:00Z
    Publisher Frontiers Media S.A.
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: Islet Coordinately Regulates Motor Axon Guidance and Dendrite Targeting through the Frazzled/DCC Receptor

    Celine Santiago / Greg J. Bashaw

    Cell Reports, Vol 18, Iss 7, Pp 1646-

    2017  Volume 1659

    Abstract: Motor neuron axon targeting in the periphery is correlated with the positions of motor neuron inputs in the CNS, but how these processes are coordinated to form a myotopic map remains poorly understood. We show that the LIM homeodomain factor Islet (Isl) ...

    Abstract Motor neuron axon targeting in the periphery is correlated with the positions of motor neuron inputs in the CNS, but how these processes are coordinated to form a myotopic map remains poorly understood. We show that the LIM homeodomain factor Islet (Isl) controls targeting of both axons and dendrites in Drosophila motor neurons through regulation of the Frazzled (Fra)/DCC receptor. Isl is required for fra expression in ventrally projecting motor neurons, and isl and fra mutants have similar axon guidance defects. Single-cell labeling indicates that isl and fra are also required for dendrite targeting in a subset of motor neurons. Finally, overexpression of Fra rescues axon and dendrite targeting defects in isl mutants. These results indicate that Fra acts downstream of Isl in both the periphery and the CNS, demonstrating how a single regulatory relationship is used in multiple cellular compartments to coordinate neural circuit wiring.
    Keywords axon guidance ; dendrite morphogenesis ; motor neurons ; Islet ; Frazzled/DCC ; myotopic map ; homeodomain ; transcription factor ; Netrin ; Biology (General) ; QH301-705.5
    Subject code 571
    Language English
    Publishing date 2017-02-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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