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  1. AU="Dimishkovska, Marija"
  2. AU="Preston, Elaina"

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  1. Artikel ; Online: Novel Founder Mutation in

    Dimishkovska, Marija / Kotori, Vjosa Mulliqi / Gucev, Zoran / Kocheva, Svetlana / Polenakovic, Momir / Plaseska-Karanfilska, Dijana

    Balkan medical journal

    2018  Band 35, Heft 1, Seite(n) 108–111

    Abstract: Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the : Case report: The novel : ... ...

    Abstract Background: Fanconi anemia is a rare autosomal recessive or X-linked disorder characterised by clinical and genetic heterogeneity. Most fanconi anemia patients harbour homozygous or double heterozygous mutations in the
    Case report: The novel
    Conclusion: The finding of the
    Mesh-Begriff(e) Balkan Peninsula ; Child ; Child, Preschool ; DNA Mutational Analysis ; DNA-Binding Proteins ; Fanconi Anemia/genetics ; Fanconi Anemia Complementation Group A Protein/genetics ; Female ; Founder Effect ; Homozygote ; Humans ; Kosovo ; Macedonia (Republic) ; Mutation ; Roma/genetics
    Chemische Substanzen DNA-Binding Proteins ; FANCA protein, human ; Fanconi Anemia Complementation Group A Protein
    Sprache Englisch
    Erscheinungsdatum 2018-02-05
    Erscheinungsland Turkey
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2612982-6
    ISSN 2146-3131 ; 2146-3123
    ISSN (online) 2146-3131
    ISSN 2146-3123
    DOI 10.4274/balkanmedj.2017.0618
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: B-cell receptor signaling and genetic lesions in TP53 and CDKN2A/CDKN2B cooperate in Richter transformation.

    Chakraborty, Supriya / Martines, Claudio / Porro, Fabiola / Fortunati, Ilaria / Bonato, Alice / Dimishkovska, Marija / Piazza, Silvano / Yadav, Brijesh S / Innocenti, Idanna / Fazio, Rosa / Vaisitti, Tiziana / Deaglio, Silvia / Zamò, Alberto / Dimovski, Aleksandar J / Laurenti, Luca / Efremov, Dimitar G

    Blood

    2021  Band 138, Heft 12, Seite(n) 1053–1066

    Abstract: B-cell receptor (BCR) signals play a critical role in the pathogenesis of chronic lymphocytic leukemia (CLL), but their role in regulating CLL cell proliferation has still not been firmly established. Unlike normal B cells, CLL cells do not proliferate ... ...

    Abstract B-cell receptor (BCR) signals play a critical role in the pathogenesis of chronic lymphocytic leukemia (CLL), but their role in regulating CLL cell proliferation has still not been firmly established. Unlike normal B cells, CLL cells do not proliferate in vitro upon engagement of the BCR, suggesting that CLL cell proliferation is regulated by other signals from the microenvironment, such as those provided by Toll-like receptors or T cells. Here, we report that BCR engagement of human and murine CLL cells induces several positive regulators of the cell cycle, but simultaneously induces the negative regulators CDKN1A, CDKN2A, and CDKN2B, which block cell-cycle progression. We further show that introduction of genetic lesions that downregulate these cell-cycle inhibitors, such as inactivating lesions in CDKN2A, CDKN2B, and the CDKN1A regulator TP53, leads to more aggressive disease in a murine in vivo CLL model and spontaneous proliferation in vitro that is BCR dependent but independent of costimulatory signals. Importantly, inactivating lesions in CDKN2A, CDKN2B, and TP53 frequently co-occur in Richter syndrome (RS), and BCR stimulation of human RS cells with such lesions is sufficient to induce proliferation. We also show that tumor cells with combined TP53 and CDKN2A/2B abnormalities remain sensitive to BCR-inhibitor treatment and are synergistically sensitive to the combination of a BCR and cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitor both in vitro and in vivo. These data provide evidence that BCR signals are directly involved in driving CLL cell proliferation and reveal a novel mechanism of Richter transformation.
    Mesh-Begriff(e) Animals ; Cell Line, Tumor ; Cell Transformation, Neoplastic/genetics ; Cell Transformation, Neoplastic/immunology ; Cyclin-Dependent Kinase Inhibitor p15/genetics ; Cyclin-Dependent Kinase Inhibitor p15/immunology ; Cyclin-Dependent Kinase Inhibitor p16/genetics ; Cyclin-Dependent Kinase Inhibitor p16/immunology ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/immunology ; Mice ; Receptors, Antigen, B-Cell/genetics ; Receptors, Antigen, B-Cell/immunology ; Signal Transduction/genetics ; Signal Transduction/immunology ; Tumor Suppressor Protein p53/genetics ; Tumor Suppressor Protein p53/immunology
    Chemische Substanzen CDKN2A protein, human ; CDKN2B protein, human ; Cdkn2a protein, mouse ; Cdkn2b protein, mouse ; Cyclin-Dependent Kinase Inhibitor p15 ; Cyclin-Dependent Kinase Inhibitor p16 ; Receptors, Antigen, B-Cell ; TP53 protein, human ; Trp53 protein, mouse ; Tumor Suppressor Protein p53
    Sprache Englisch
    Erscheinungsdatum 2021-04-26
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2020008276
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family.

    Petkov, Georgi / Dimishkovska, Marija / Tsoneva Ivanova, Vanya / Yordanov, Georgi / Zdraveski, Alexandar / Plaseska-Karanfilska, Dijana

    Hemoglobin

    2015  Band 39, Heft 6, Seite(n) 430–431

    Abstract: The abnormal hemoglobin (Hb) with an aspartic acid to asparagine substitution at α64 has been found on both the α2- and α1-globin genes. It has been described in many different populations under different names, but never in Bulgaria. Using the recently ... ...

    Abstract The abnormal hemoglobin (Hb) with an aspartic acid to asparagine substitution at α64 has been found on both the α2- and α1-globin genes. It has been described in many different populations under different names, but never in Bulgaria. Using the recently proposed nomenclature, Hb G-Waimanalo [A1] refers to the HBA1: c.193G > A, while Hb G-Waimanalo [A2] refers to the HBA2: c.193G > A mutation. Here, we present the first family from Bulgaria with Hb G-Waimanalo [A1].
    Mesh-Begriff(e) Adolescent ; Adult ; Anemia, Hypochromic/diagnosis ; Anemia, Hypochromic/genetics ; Bulgaria ; Child ; Child, Preschool ; DNA Mutational Analysis ; Erythrocyte Indices ; Family ; Female ; Genotype ; Glycated Hemoglobin A/genetics ; Hemoglobins, Abnormal/genetics ; Humans ; Male ; Mutation ; Phenotype ; Young Adult ; alpha-Globins/genetics
    Chemische Substanzen Glycated Hemoglobin A ; Hemoglobins, Abnormal ; alpha-Globins ; hemoglobin G Waimanalo (52012-21-2)
    Sprache Englisch
    Erscheinungsdatum 2015
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.3109/03630269.2015.1066685
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: First Cases of Hb Agrinio Described in Patients from the Republic of Macedonia.

    Dimishkovska, Marija / Kuzmanovska, Maja / Kocheva, Svetlana / Martinova, Kata / Karanfilski, Oliver / Stojanoski, Zlate / Plaseska-Karanfilska, Dijana

    Hemoglobin

    2017  Band 41, Heft 4-6, Seite(n) 308–310

    Abstract: Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: - ... ...

    Abstract Previous molecular analyses of α-thalassemia (α-thal) in the Republic of Macedonia have identified the following genetic defects: -α
    Mesh-Begriff(e) Child ; Child, Preschool ; Female ; Hemoglobins, Abnormal/genetics ; Hemoglobins, Abnormal/metabolism ; Homozygote ; Humans ; Macedonia (Republic) ; alpha-Thalassemia/blood ; alpha-Thalassemia/genetics
    Chemische Substanzen Hemoglobins, Abnormal ; hemoglobin Agrinio
    Sprache Englisch
    Erscheinungsdatum 2017-07
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 750615-6
    ISSN 1532-432X ; 0363-0269
    ISSN (online) 1532-432X
    ISSN 0363-0269
    DOI 10.1080/03630269.2017.1397016
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel ; Online: Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva.

    Gucev, Zoran / Tasic, Velibor / Plaseska-Karanfilska, Dijana / Dimishkovska, Marija / Laban, Nevenka / Bozinovski, Zoran / Kostovski, Marko / Saveski, Alek / Polenakovic, Momir / Towler, O Will / Shore, Eileen M / Kaplan, Frederick S

    American journal of medical genetics. Part A

    2019  Band 179, Heft 7, Seite(n) 1310–1314

    Abstract: A 16-year-old girl with a history of nontraumatic swelling of both forearms, osteochondromas of the knees, heterotopic ossification of the neck and back, severe malformations of all digits with hypoplastic or absent nails, alopecia partialis of the scalp, ...

    Abstract A 16-year-old girl with a history of nontraumatic swelling of both forearms, osteochondromas of the knees, heterotopic ossification of the neck and back, severe malformations of all digits with hypoplastic or absent nails, alopecia partialis of the scalp, and moderate cognitive impairment was seen for diagnostic evaluation. Whole exome sequencing identified an activating mutation of ACVR1 (c.983G > A; p.Gly328Glu) which confirmed a suspected FOP variant. The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification.
    Mesh-Begriff(e) Activin Receptors, Type I/genetics ; Adolescent ; Female ; Fingers/abnormalities ; Humans ; Mutation ; Myositis Ossificans/genetics ; Myositis Ossificans/pathology
    Chemische Substanzen ACVR1 protein, human (EC 2.7.11.30) ; Activin Receptors, Type I (EC 2.7.11.30)
    Sprache Englisch
    Erscheinungsdatum 2019-04-22
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.61153
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel: LHX4 Gene Alterations: Patient Report and Review of the Literature.

    Gucev, Zoran / Tasic, Velibor / Plaseska-Karanfilska, Dijana / Konstantinova, Marina Krstevska / Stamatova, Ana / Dimishkovska, Marija / Laban, Nevenka / Polenakovic, Momir

    Pediatric endocrinology reviews : PER

    2016  Band 13, Heft 4, Seite(n) 749–755

    Abstract: LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD. We describe a 14 years old boy who was referred for investigation of short stature. Convergent strabismus, nystagmus was present. At the age of 5 years his ... ...

    Abstract LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD. We describe a 14 years old boy who was referred for investigation of short stature. Convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8.2 ng/ml). Other pituitary hormones were within normal range. Muscle biopsy showed congenital myopathy of undefined etiology. MRI of the brain revealed the empty sella syndrome. Targeted resequencing with a panel containing probe sets for enrichment and analysis of > 4,800 clinically relevant genes, targeting 12Mb of the human genome revealed the c.250C>T (R84C) LHX4 mutation. His father is healthy, with no myopathy or pituitary deficiencies, but has the same LHX4 mutation. This report extends the range of phenotypes associated with LHX4 gene mutations. To the best of our knowledge, we are the first to report on congenital myopathy in an LHX4 gene mutation. Forthwith, we offer a comprehensive review of the patients published so far with their clinical and genetic characteristics.
    Mesh-Begriff(e) Adolescent ; Humans ; LIM-Homeodomain Proteins/genetics ; Male ; Muscular Diseases/diagnosis ; Muscular Diseases/genetics ; Mutation/genetics ; Transcription Factors/genetics
    Chemische Substanzen LHX4 protein, human ; LIM-Homeodomain Proteins ; Transcription Factors
    Sprache Englisch
    Erscheinungsdatum 2016-06
    Erscheinungsland Israel
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2434390-0
    ISSN 1565-4753
    ISSN 1565-4753
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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