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  1. AU="Doan, Ryan N"
  2. AU=Kovo Michal
  3. AU="Gaglani, Shiv"
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  1. Artikel ; Online: Rare De Novo and Inherited Genes in Familial and Nonfamilial Pediatric Attention-Deficit/Hyperactivity Disorder.

    Arnett, Anne B / Harstad, Elizabeth / O'Connell, Mia / Hayes, Katheryn / Brewster, Stephanie / Barbaresi, William / Doan, Ryan N

    JAMA pediatrics

    2023  Band 178, Heft 1, Seite(n) 81–84

    Mesh-Begriff(e) Humans ; Child ; Attention Deficit Disorder with Hyperactivity/genetics ; Parents ; Siblings
    Sprache Englisch
    Erscheinungsdatum 2023-12-01
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2701223-2
    ISSN 2168-6211 ; 2168-6203
    ISSN (online) 2168-6211
    ISSN 2168-6203
    DOI 10.1001/jamapediatrics.2023.4952
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions.

    Doan, Ryan N / Shin, Taehwan / Walsh, Christopher A

    Annual review of neuroscience

    2018  Band 41, Seite(n) 185–206

    Abstract: Understanding the biological basis for human-specific cognitive traits presents both immense challenges and unique opportunities. Although the question of what makes us human has been investigated with several different methods, the rise of comparative ... ...

    Abstract Understanding the biological basis for human-specific cognitive traits presents both immense challenges and unique opportunities. Although the question of what makes us human has been investigated with several different methods, the rise of comparative genomics, epigenomics, and medical genetics has provided tools to help narrow down and functionally assess the regions of the genome that seem evolutionarily relevant along the human lineage. In this review, we focus on how medical genetic cases have provided compelling functional evidence for genes and loci that appear to have interesting evolutionary signatures in humans. Furthermore, we examine a special class of noncoding regions, human accelerated regions (HARs), that have been suggested to show human-lineage-specific divergence, and how the use of clinical and population data has started to provide functional information to examine these regions. Finally, we outline methods that provide new insights into functional noncoding sequences in evolution.
    Mesh-Begriff(e) Animals ; Behavior/physiology ; Biological Evolution ; Brain/cytology ; Brain/growth & development ; Brain/metabolism ; Gene Expression Regulation, Developmental/genetics ; Genomics ; Humans ; Nervous System Diseases/genetics ; Nervous System Diseases/pathology ; Nervous System Diseases/physiopathology
    Sprache Englisch
    Erscheinungsdatum 2018-07-09
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 282459-0
    ISSN 1545-4126 ; 0147-006X
    ISSN (online) 1545-4126
    ISSN 0147-006X
    DOI 10.1146/annurev-neuro-080317-062104
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Pathologic characterization of canine multiple system degeneration in the Ibizan hound

    St. Jean, Samantha C. / Jortner, Bernard S. / Doan, Ryan N. / Dindot, Scott V. / Johnson, Gary S. / Bullock, Garrett / Whitley, Derick B. / Levine, Jonathan M. / Hancock, Sandra K. / Ambrus, Andy / Porter, Brian F.

    Veterinary Pathology. 2022 Jan., v. 59, no. 1 p.132-137

    2022  

    Abstract: Canine multiple system degeneration (CMSD) is a progressive hereditary neurodegenerative disorder commonly characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei. In this article, we ... ...

    Abstract Canine multiple system degeneration (CMSD) is a progressive hereditary neurodegenerative disorder commonly characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei. In this article, we describe 3 cases of CMSD in Ibizan hounds. All patients exhibited marked cerebellar ataxia and had cerebellar atrophy on magnetic resonance imaging. At necropsy, all cases showed varying degrees of cerebellar atrophy, and 2 cases had gross cavitation of the caudate nuclei. Histologic findings included severe degeneration and loss of all layers of the cerebellum and neuronal loss and degeneration within the olivary nuclei, substantia nigra, and caudate nuclei. Pedigree analysis indicated an autosomal recessive mode of inheritance, but the causative gene in this breed is yet to be identified. CMSD resembles human multiple system atrophy and warrants further investigation.
    Schlagwörter animal pathology ; atrophy ; cerebellum ; dogs ; genes ; histology ; humans ; magnetism ; necropsy ; neurodegenerative diseases ; neurons ; pedigree ; brain diseases ; canine multiple system degeneration ; CMSD ; Ibizan hound ; cerebellar ataxia ; neuropathology ; genetic diseases
    Sprache Englisch
    Erscheinungsverlauf 2022-01
    Umfang p. 132-137.
    Erscheinungsort SAGE Publications
    Dokumenttyp Artikel ; Online
    ZDB-ID 188012-3
    ISSN 1544-2217 ; 0300-9858
    ISSN (online) 1544-2217
    ISSN 0300-9858
    DOI 10.1177/03009858211043088
    Datenquelle NAL Katalog (AGRICOLA)

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    Verfügbar in ZB MED Bonn

    Z 1959: Hefte anzeigen

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  4. Artikel: Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

    Shin, Taehwan / Song, Janet H T / Kosicki, Michael / Kenny, Connor / Beck, Samantha G / Kelley, Lily / Qian, Xuyu / Bonacina, Julieta / Papandile, Frances / Antony, Irene / Gonzalez, Dilenny / Scotellaro, Julia / Bushinsky, Evan M / Andersen, Rebecca E / Maury, Eduardo / Pennacchio, Len A / Doan, Ryan N / Walsh, Christopher A

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans; experimentally ...

    Abstract Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans; experimentally validated neural Vista Enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole genome analysis of >16,600 samples and >4900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly, if at all, in simplex family structures. We identified multiple patient variants in HARs near
    Sprache Englisch
    Erscheinungsdatum 2023-09-22
    Erscheinungsland United States
    Dokumenttyp Preprint
    DOI 10.1101/2023.09.19.23295780
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.

    Rodin, Rachel E / Dou, Yanmei / Kwon, Minseok / Sherman, Maxwell A / D'Gama, Alissa M / Doan, Ryan N / Rento, Lariza M / Girskis, Kelly M / Bohrson, Craig L / Kim, Sonia N / Nadig, Ajay / Luquette, Lovelace J / Gulhan, Doga C / Park, Peter J / Walsh, Christopher A

    Nature neuroscience

    2023  Band 26, Heft 10, Seite(n) 1833

    Sprache Englisch
    Erscheinungsdatum 2023-09-13
    Erscheinungsland United States
    Dokumenttyp Published Erratum
    ZDB-ID 1420596-8
    ISSN 1546-1726 ; 1097-6256
    ISSN (online) 1546-1726
    ISSN 1097-6256
    DOI 10.1038/s41593-023-01437-x
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel ; Online: MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.

    Doan, Ryan N / Miller, Michael B / Kim, Sonia N / Rodin, Rachel E / Ganz, Javier / Bizzotto, Sara / Morillo, Katherine S / Huang, August Yue / Digumarthy, Reethika / Zemmel, Zachary / Walsh, Christopher A

    BMC medical genomics

    2021  Band 14, Heft 1, Seite(n) 47

    Abstract: Background: Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, and early detection of cancers. ... ...

    Abstract Background: Mosaic mutations contribute to numerous human disorders. As such, the identification and precise quantification of mosaic mutations is essential for a wide range of research applications, clinical diagnoses, and early detection of cancers. Currently, the low-throughput nature of single allele assays (e.g., allele-specific ddPCR) commonly used for genotyping known mutations at very low alternate allelic fractions (AAFs) have limited the integration of low-level mosaic analyses into clinical and research applications. The growing importance of mosaic mutations requires a more rapid, low-cost solution for mutation detection and validation.
    Methods: To overcome these limitations, we developed Multiple Independent Primer PCR Sequencing (MIPP-Seq) which combines the power of ultra-deep sequencing and truly independent assays. The accuracy of MIPP-seq to quantifiable detect and measure extremely low allelic fractions was assessed using a combination of SNVs, insertions, and deletions at known allelic fractions in blood and brain derived DNA samples.
    Results: The Independent amplicon analyses of MIPP-Seq markedly reduce the impact of allelic dropout, amplification bias, PCR-induced, and sequencing artifacts. Using low DNA inputs of either 25 ng or 50 ng of DNA, MIPP-Seq provides sensitive and quantitative assessments of AAFs as low as 0.025% for SNVs, insertion, and deletions.
    Conclusions: MIPP-Seq provides an ultra-sensitive, low-cost approach for detecting and validating known and novel mutations in a highly scalable system with broad utility spanning both research and clinical diagnostic testing applications. The scalability of MIPP-Seq allows for multiplexing mutations and samples, which dramatically reduce costs of variant validation when compared to methods like ddPCR. By leveraging the power of individual analyses of multiple unique and independent reactions, MIPP-Seq can validate and precisely quantitate extremely low AAFs across multiple tissues and mutational categories including both indels and SNVs. Furthermore, using Illumina sequencing technology, MIPP-seq provides a robust method for accurate detection of novel mutations at an extremely low AAF.
    Mesh-Begriff(e) Humans ; INDEL Mutation ; Neoplasms ; Software
    Sprache Englisch
    Erscheinungsdatum 2021-02-12
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 1755-8794
    ISSN (online) 1755-8794
    DOI 10.1186/s12920-021-00893-3
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel: Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex.

    Kim, Sonia Nan / Viswanadham, Vinayak V / Doan, Ryan N / Dou, Yanmei / Bizzotto, Sara / Khoshkhoo, Sattar / Huang, August Yue / Yeh, Rebecca / Chhouk, Brian / Truong, Alex / Chappell, Kathleen M / Beaudin, Marc / Barton, Alison / Akula, Shyam K / Rento, Lariza / Lodato, Michael / Ganz, Javier / Szeto, Ryan A / Li, Pengpeng /
    Tsai, Jessica W / Hill, Robert Sean / Park, Peter J / Walsh, Christopher A

    bioRxiv : the preprint server for biology

    2023  

    Abstract: The mammalian cerebral cortex shows functional specialization into regions with distinct neuronal compositions, most strikingly in the human brain, but little is known in about how cellular lineages shape cortical regional variation and neuronal cell ... ...

    Abstract The mammalian cerebral cortex shows functional specialization into regions with distinct neuronal compositions, most strikingly in the human brain, but little is known in about how cellular lineages shape cortical regional variation and neuronal cell types during development. Here, we use somatic single nucleotide variants (sSNVs) to map lineages of neuronal sub-types and cortical regions. Early-occurring sSNVs rarely respect Brodmann area (BA) borders, while late-occurring sSNVs mark neuron-generating clones with modest regional restriction, though descendants often dispersed into neighboring BAs. Nevertheless, in visual cortex, BA17 contains 30-70% more sSNVs compared to the neighboring BA18, with clones across the BA17/18 border distributed asymmetrically and thus displaying different cortex-wide dispersion patterns. Moreover, we find that excitatory neuron-generating clones with modest regional restriction consistently share low-mosaic sSNVs with some inhibitory neurons, suggesting significant co-generation of excitatory and some inhibitory neurons in the dorsal cortex. Our analysis reveals human-specific cortical cell lineage patterns, with both regional inhomogeneities in progenitor proliferation and late divergence of excitatory/inhibitory lineages.
    Sprache Englisch
    Erscheinungsdatum 2023-11-06
    Erscheinungsland United States
    Dokumenttyp Preprint
    DOI 10.1101/2023.11.06.565899
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain.

    Ganz, Javier / Maury, Eduardo A / Becerra, Basheer / Bizzotto, Sara / Doan, Ryan N / Kenny, Connor J / Shin, Taehwan / Kim, Junho / Zhou, Zinan / Ligon, Keith L / Lee, Eunjung Alice / Walsh, Christopher A

    Cancer discovery

    2021  Band 12, Heft 1, Seite(n) 172–185

    Abstract: Although oncogenic mutations have been found in nondiseased, proliferative nonneural tissues, their prevalence in the human brain is unknown. Targeted sequencing of genes implicated in brain tumors in 418 samples derived from 110 individuals of varying ... ...

    Abstract Although oncogenic mutations have been found in nondiseased, proliferative nonneural tissues, their prevalence in the human brain is unknown. Targeted sequencing of genes implicated in brain tumors in 418 samples derived from 110 individuals of varying ages, without tumor diagnoses, detected oncogenic somatic single-nucleotide variants (sSNV) in 5.4% of the brains, including
    Mesh-Begriff(e) Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Brain/pathology ; Brain Neoplasms/genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Oncogenes ; Polymorphism, Single Nucleotide ; Young Adult
    Sprache Englisch
    Erscheinungsdatum 2021-08-13
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2625242-9
    ISSN 2159-8290 ; 2159-8274
    ISSN (online) 2159-8290
    ISSN 2159-8274
    DOI 10.1158/2159-8290.CD-21-0245
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel ; Online: Pathologic characterization of canine multiple system degeneration in the Ibizan hound.

    St Jean, Samantha C / Jortner, Bernard S / Doan, Ryan N / Dindot, Scott V / Johnson, Gary S / Bullock, Garrett / Whitley, Derick B / Levine, Jonathan M / Hancock, Sandra K / Ambrus, Andy / Porter, Brian F

    Veterinary pathology

    2021  Band 59, Heft 1, Seite(n) 132–137

    Abstract: Canine multiple system degeneration (CMSD) is a progressive hereditary neurodegenerative disorder commonly characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei. In this article, we ... ...

    Abstract Canine multiple system degeneration (CMSD) is a progressive hereditary neurodegenerative disorder commonly characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei. In this article, we describe 3 cases of CMSD in Ibizan hounds. All patients exhibited marked cerebellar ataxia and had cerebellar atrophy on magnetic resonance imaging. At necropsy, all cases showed varying degrees of cerebellar atrophy, and 2 cases had gross cavitation of the caudate nuclei. Histologic findings included severe degeneration and loss of all layers of the cerebellum and neuronal loss and degeneration within the olivary nuclei, substantia nigra, and caudate nuclei. Pedigree analysis indicated an autosomal recessive mode of inheritance, but the causative gene in this breed is yet to be identified. CMSD resembles human multiple system atrophy and warrants further investigation.
    Mesh-Begriff(e) Animals ; Autopsy/veterinary ; Breeding ; Cerebellum/diagnostic imaging ; Dog Diseases/diagnosis ; Dog Diseases/genetics ; Dogs ; Humans ; Neurodegenerative Diseases/veterinary
    Sprache Englisch
    Erscheinungsdatum 2021-09-07
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 188012-3
    ISSN 1544-2217 ; 0300-9858
    ISSN (online) 1544-2217
    ISSN 0300-9858
    DOI 10.1177/03009858211043088
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Micromanipulation reveals an XO-XX sex determining system in the orb-weaving spider Neoscona arabesca (Walckenaer).

    Doan, Ryan N / Paliulis, Leocadia V

    Hereditas

    2009  Band 146, Heft 4, Seite(n) 180–182

    Abstract: Karyotypes can be difficult to create due to odd chromosome behaviors and high levels of adhesion between sex chromosomes. We have used live-cell imaging and micromanipulation to determine precisely the karyotype of the orb-weaving spider Neoscona ... ...

    Abstract Karyotypes can be difficult to create due to odd chromosome behaviors and high levels of adhesion between sex chromosomes. We have used live-cell imaging and micromanipulation to determine precisely the karyotype of the orb-weaving spider Neoscona arabesca (Walckenaer). We have found that N. arabesca has a sex determination mechanism of XO (male)-XX (female) with 2n = 20 autosomes. Staining of female tissues revealed a chromosome number of 22 in mitotic cells.
    Mesh-Begriff(e) Animals ; Chromosome Banding ; Female ; Karyotyping ; Male ; Micromanipulation ; Mitosis ; Sex Determination Processes ; Spiders/genetics ; X Chromosome/genetics ; X Chromosome/ultrastructure
    Sprache Englisch
    Erscheinungsdatum 2009-09
    Erscheinungsland England
    Dokumenttyp Journal Article
    ZDB-ID 214294-6
    ISSN 1601-5223 ; 0018-0661
    ISSN (online) 1601-5223
    ISSN 0018-0661
    DOI 10.1111/j.1601-5223.2009.02123.x
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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