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  1. Article ; Online: Mitochondrial dysfunction characterized in human induced pluripotent stem cell disease models in MELAS syndrome: A brief summary.

    Latchman, Kumarie / Saporta, Mario / Moraes, Carlos T

    Mitochondrion

    2023  Volume 72, Page(s) 102–105

    Abstract: Human induced pluripotent stem cells (hiPSCs) for MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) may allow deeper understanding of how tissue-specific mitochondrial dysfunction result in multi-systemic ... ...

    Abstract Human induced pluripotent stem cells (hiPSCs) for MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) may allow deeper understanding of how tissue-specific mitochondrial dysfunction result in multi-systemic disease. Here, we summarize how the m.3243G mtDNA mutation affects mitochondrial function in different tissues using iPSC and iPSC-differentiated cell type disease models and what significant findings have been replicated in the independent studies. Through this brief review and with a focus on mitochondrial dysfunction in iPSC-differentiated cell types, namely fibroblast, neuron, and retinal pigment epithelium cells, we aim to bring awareness of hiPSC as a robust mitochondrial disease model even if many unanswered questions remain.
    MeSH term(s) Humans ; MELAS Syndrome/genetics ; Induced Pluripotent Stem Cells ; Acidosis, Lactic ; Cell Differentiation ; Mitochondria
    Language English
    Publishing date 2023-08-25
    Publishing country Netherlands
    Document type Review ; Journal Article
    ZDB-ID 2056923-3
    ISSN 1872-8278 ; 1567-7249
    ISSN (online) 1872-8278
    ISSN 1567-7249
    DOI 10.1016/j.mito.2023.08.003
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.

    Peart, Lé Shon / Gonzalez, Joanna / Bivona, Stephanie / Latchman, Kumarie / Torres, Leonardo / Tekin, Mustafa

    American journal of medical genetics. Part A

    2022  Volume 188, Issue 4, Page(s) 1307–1310

    Abstract: Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic PLCB4 variants have been reported in a subset of affected individuals, ... ...

    Abstract Auriculocondylar syndrome (ARCND) is characterized by a distinguished feature of question mark ears and a variation of other minor and major malformations. Monoallelic or biallelic PLCB4 variants have been reported in a subset of affected individuals, referred to as ARCND2. We report on a 3-year-old female with ARCND who presented at birth with question mark ears, micrognathia, and bilateral choanal stenosis that was characterized by difficulty in breathing. She was found to be heterozygous for a novel PLCB4 variant, p.Glu358Gly. Respiratory distress is rare in autosomal dominant ARCND2 and choanal stenosis has not been reported. Our study expands the clinical phenotype of ARCND by adding choanal stenosis as a finding and suggests that PLCB4 play a role in the development of choanal structures.
    MeSH term(s) Choanal Atresia/diagnosis ; Choanal Atresia/genetics ; Constriction, Pathologic/genetics ; Ear/abnormalities ; Ear Diseases ; Female ; GTP-Binding Protein alpha Subunits, Gi-Go/genetics ; Humans ; Mutation ; Pedigree ; Phospholipase C beta/genetics
    Chemical Substances PLCB4 protein, human (EC 3.1.4.11) ; Phospholipase C beta (EC 3.1.4.11) ; GTP-Binding Protein alpha Subunits, Gi-Go (EC 3.6.5.1)
    Language English
    Publishing date 2022-01-07
    Publishing country United States
    Document type Case Reports ; Research Support, N.I.H., Extramural
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62634
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    Zs.A 1376/A: Show issues Location:
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  3. Article: Spastic Diplegia in a Haitian Girl with Angelman Syndrome.

    Latchman, Kumarie / Nieto-Moreno, Margarita / Alberola, Roberto Lopez

    Journal of pediatric genetics

    2019  Volume 9, Issue 2, Page(s) 104–108

    Abstract: Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developmental ...

    Abstract Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developmental delay, speech impairment, intellectual disability, microcephaly, and seizures. Spastic diplegia is classically associated with cerebral palsy (CP), an umbrella term encompassing developmental delay, abnormal brain magnetic resonance imaging findings, and various types of CP including spastic, ataxic, dyskinetic, and mixed types. We present a 12-year-old Haitian patient of African descent with AS due to a microdeletion involving the entire
    Language English
    Publishing date 2019-09-23
    Publishing country Germany
    Document type Case Reports
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.1055/s-0039-1697029
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Spastic Diplegia in a Haitian Girl with Angelman Syndrome

    Latchman, Kumarie / Nieto-Moreno, Margarita / Alberola, Roberto Lopez

    Journal of Pediatric Genetics

    2019  Volume 09, Issue 02, Page(s) 104–108

    Abstract: Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developmental ...

    Abstract Spastic diplegia, a muscle hypertonia motor syndrome, can occur in conjunction with the characteristic abnormal movement features of Angelman syndrome (AS), a neurodevelopmental disorder with primary features of ataxic gait, happy demeanor, developmental delay, speech impairment, intellectual disability, microcephaly, and seizures. Spastic diplegia is classically associated with cerebral palsy (CP), an umbrella term encompassing developmental delay, abnormal brain magnetic resonance imaging findings, and various types of CP including spastic, ataxic, dyskinetic, and mixed types. We present a 12-year-old Haitian patient of African descent with AS due to a microdeletion involving the entire UBE3A (ubiquitin-protein ligase E3A) gene and spastic diplegia. She was initially given a clinical diagnosis of CP. Cases of AS in patients of African descent have been rarely reported and this case of severe spastic diplegia, unresponsive to medical intervention, reflects a rarely reported presentation of AS in patients of African descent and possibly the first reported case of a Haitian patient with this clinical presentation. Given that deletions are the most common mechanism resulting in AS, this case report provides supportive evidence that chromosome 15q11 deletion-type AS is most frequently associated with spastic diplegia, a more severe motor impairment phenotype in AS.
    Keywords Angelman syndrome ; spastic diplegia
    Language English
    Publishing date 2019-09-23
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.1055/s-0039-1697029
    Database Thieme publisher's database

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  5. Article ; Online: Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent.

    Latchman, Kumarie / Calder, Madison / Morel, Dayna / Rhodes, Lindsay / Juusola, Jane / Tekin, Mustafa

    American journal of medical genetics. Part A

    2019  Volume 182, Issue 3, Page(s) 548–552

    Abstract: ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral ...

    Abstract ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating autosomal dominant inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
    MeSH term(s) Aged ; Alleles ; Child ; Child, Preschool ; Exome/genetics ; Female ; Genetic Predisposition to Disease ; Hearing Loss, Sensorineural/complications ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/genetics ; Hearing Loss, Sensorineural/pathology ; Humans ; Intellectual Disability/complications ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Intellectual Disability/pathology ; Male ; Middle Aged ; Mutation/genetics ; Nervous System Malformations/diagnosis ; Nervous System Malformations/genetics ; Nervous System Malformations/pathology ; Neurodevelopmental Disorders/complications ; Neurodevelopmental Disorders/diagnosis ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Parents ; Siblings ; Transcription Factors/genetics
    Chemical Substances Transcription Factors ; ZMIZ1 protein, human
    Language English
    Publishing date 2019-12-12
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61446
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1376/A: Show issues Location:
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  6. Article ; Online: A founder noncoding GALT variant interfering with splicing causes galactosemia.

    Latchman, Kumarie / Brown, Jeanette / Sineni, Claire J / Ragin-Dames, Lorrien / Guo, Shengru / Huang, Jingyu / Thorson, Willa / Hacker, Stephanie / Barbouth, Deborah / Tekin, Mustafa / Bademci, Guney

    Journal of inherited metabolic disease

    2020  Volume 43, Issue 6, Page(s) 1199–1204

    Abstract: Galactosemia is a rare, treatable hereditary disorder of carbohydrate metabolism. We investigated the etiology of decreased GALT enzyme activity in a cohort of newborns referred by the Florida Newborn Screening Program with no detectable GALT variants in ...

    Abstract Galactosemia is a rare, treatable hereditary disorder of carbohydrate metabolism. We investigated the etiology of decreased GALT enzyme activity in a cohort of newborns referred by the Florida Newborn Screening Program with no detectable GALT variants in diagnostic molecular tests. Six affected individuals from four families with Guatemalan heritage were included. GALT enzyme activity ranged from 20% to 34% of normal. Clinical findings were unremarkable except for speech delay in two children. Via genome sequencing followed by Sanger confirmation we showed that all affected individuals were homozygous for a deep intronic GALT variant, c.1059+390A>G, which segregated as an autosomal recessive trait in all families. The intronic variant disrupts splicing and leads to a premature termination and is associated with a single haplotype flanking GALT, suggesting a founder effect. In conclusion, we present a deep intronic GALT variant leading to a biochemical variant form of galactosemia. This variant remains undiagnosed until it is specifically targeted in molecular testing.
    MeSH term(s) Child, Preschool ; Family Health ; Female ; Galactosemias/blood ; Galactosemias/diagnosis ; Galactosemias/genetics ; Genetic Testing ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Neonatal Screening ; UTP-Hexose-1-Phosphate Uridylyltransferase/deficiency ; UTP-Hexose-1-Phosphate Uridylyltransferase/genetics
    Chemical Substances UTP-Hexose-1-Phosphate Uridylyltransferase (EC 2.7.7.10) ; GALT protein, human (EC 2.7.7.12)
    Language English
    Publishing date 2020-08-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 438341-2
    ISSN 1573-2665 ; 0141-8955
    ISSN (online) 1573-2665
    ISSN 0141-8955
    DOI 10.1002/jimd.12293
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    Zs.A 1508: Show issues Location:
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