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  1. AU="Balak, Christopher D"
  2. AU="Golovina, Galina"

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  1. Article ; Online: Deciphering microglia phenotypes in health and disease.

    Balak, Christopher D / Han, Claudia Z / Glass, Christopher K

    Current opinion in genetics & development

    2024  Volume 84, Page(s) 102146

    Abstract: Microglia are the major immune cells of the central nervous system (CNS) that perform numerous adaptive functions required for normal CNS development and homeostasis but are also linked to neurodegenerative and behavioral diseases. Microglia development ... ...

    Abstract Microglia are the major immune cells of the central nervous system (CNS) that perform numerous adaptive functions required for normal CNS development and homeostasis but are also linked to neurodegenerative and behavioral diseases. Microglia development and function are strongly influenced by brain environmental signals that are integrated at the level of transcriptional enhancers to drive specific programs of gene expression. Here, we describe a conceptual framework for how lineage-determining and signal-dependent transcription factors interact to select and regulate the ensembles of enhancers that determine microglia development and function. We then highlight recent findings that advance these concepts and conclude with a consideration of open questions that represent some of the major hurdles to be addressed in the future.
    MeSH term(s) Humans ; Microglia/physiology ; Neurodegenerative Diseases/genetics ; Central Nervous System ; Brain ; Phenotype
    Language English
    Publishing date 2024-01-03
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2023.102146
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

    Hunter, Jesse M / Kiefer, Jeff / Balak, Christopher D / Jooma, Sonya / Ahearn, Mary Ellen / Hall, Judith G / Baumbach-Reardon, Lisa

    American journal of medical genetics. Part A

    2015  Volume 167A, Issue 5, Page(s) 931–973

    Abstract: The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X- ... ...

    Abstract The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.
    MeSH term(s) Arthrogryposis/diagnosis ; Arthrogryposis/genetics ; Arthrogryposis/pathology ; Contracture/diagnosis ; Contracture/genetics ; Contracture/pathology ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Humans ; Metabolic Networks and Pathways/genetics ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/pathology ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Muscular Diseases/pathology ; Mutation ; Pedigree
    Language English
    Publishing date 2015-03-19
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.36934
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

    Hunter, Jesse M / Ahearn, Mary Ellen / Balak, Christopher D / Liang, Winnie S / Kurdoglu, Ahmet / Corneveaux, Jason J / Russell, Megan / Huentelman, Matthew J / Craig, David W / Carpten, John / Coons, Stephen W / DeMello, Daphne E / Hall, Judith G / Bernes, Saunder M / Baumbach-Reardon, Lisa

    Molecular genetics & genomic medicine

    2015  Volume 3, Issue 4, Page(s) 283–301

    Abstract: Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result ... ...

    Abstract Neuromuscular diseases (NMD) account for a significant proportion of infant and childhood mortality and devastating chronic disease. Determining the specific diagnosis of NMD is challenging due to thousands of unique or rare genetic variants that result in overlapping phenotypes. We present four unique childhood myopathy cases characterized by relatively mild muscle weakness, slowly progressing course, mildly elevated creatine phosphokinase (CPK), and contractures. We also present two additional cases characterized by severe prenatal/neonatal myopathy. Prior extensive genetic testing and histology of these cases did not reveal the genetic etiology of disease. Here, we applied whole exome sequencing (WES) and bioinformatics to identify likely causal pathogenic variants in each pedigree. In two cases, we identified novel pathogenic variants in COL6A3. In a third case, we identified novel likely pathogenic variants in COL6A6 and COL6A3. We identified a novel splice variant in EMD in a fourth case. Finally, we classify two cases as calcium channelopathies with identification of novel pathogenic variants in RYR1 and CACNA1S. These are the first cases of myopathies reported to be caused by variants in COL6A6 and CACNA1S. Our results demonstrate the utility and genetic diagnostic value of WES in the broad class of NMD phenotypes.
    Language English
    Publishing date 2015-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2734884-2
    ISSN 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.142
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