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Institut für Humangenetik
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Institut für Humangenetik / Publikationen / 2020

2020

  • Al-Rikabi A, Liehr L-B, Liehr T. Glass-needle based chromosome microdissection – how to set up probes for molecular cytogenetics? Video J Clin Res 2020;2:100004VAM08AR2020.
  • Aly J, Engmann O. The way to a human's brain goes through their stomach: Dietary factors in major depressive disorder. Front Neurosci 2020, 14:582853.
  • Azawi S, Liehr T, Rincic M, Manferrari M. Molecular cytogenomic characterization of the murine breast cancer cell lines C-127I, EMT6/P and TA3 Hauschka. Int J Mol Sci 2020, 21:4716.

  • Behrends M, Engmann O. Linker histone H1.5 is an underestimated factor in differentiation and carcinogenesis. Environ Epigenet 2020, 6:dvaa013.

  • Christensen IB, Wu Q, Bohlbro AS, Skals MG, Damkier HH, Hübner CA, Fenton RA, Praetorius J. Genetic disruption of slc4a10 alters the capacity for cellular metabolism and vectorial ion transport in the choroid plexus epithelium. Fluids Barriers CNS. 2020, 17:2.

  • Cinque L, De Leonibus C, Iavazzo M, Krahmer N, Intartaglia D, Salierno FG, De Cegli R, Di Malta C, Svelto M, Lanzara C, Maddaluno M, Wanderlingh LG, Huebner AK, Cesana M, Bonn F, Polishchuk E, Hübner CA, Conte I, Dikic I, Mann M, Ballabio A, Sacco F, Grumati P, Settembre C. MiT/TFE factors control ER-phagy via transcriptional regulation of FAM134B. EMBO J 2020, 39:e105696.
  • de Figueiredo AF , Land MGP, Ferreira GM, Mencalha A, Binato R, Capela de Matos RR, Liehr T, Silva MLM, Abdelhay E. Clinical and biological correlates of the expression of select Polycomb complex genes in Brazilian children with acute promyelocytic leukaemia. Br J Haematol 2020, 189: e222-e265.
  • Deon GA, Glugoski L, Vicari MR, Nogaroto V, de Menezes F, Sassi C, de Bello Cioffi M, Liehr T, Bertollo LAC, Filho OM. Highly rearranged karyotypes and multiple sex chromosome systems in armored catfishes from the genus Harttia (Teleostei, Siluriformes). Genes 2020, 11:1366.
  • Ditcharoen S, Sassi FMC, Bertollo LAC, Molina WF, Liehr T, Saenjundaeng P, Tanomtong A, Supiwong W, Suwannapoom C, Cioffi MB. Comparative chromosomal mapping of microsatellite repeats reveals divergent patterns of accumulation in 12 Siluridae (Teleostei: Siluriformes) species. Genet Mol Biol 2020, 43:e20200091.
  • Ebbinghaus M, Tuchscherr L, Segond von Banchet G, Liebmann L, Adams V, Gajda M, Hübner CA, Kurth I, Schaible HG. Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice. PLoS One 2020, 15:e0237101.
  • Ernst P, Engmann B, Frietsch JJ, Schnetzke U, Scholl S, Theis B, Kreipe HH, Ernst T, Glaser A, Haferlach T, Koch T, Hochhaus A, Hilgendorf I. A 19-year-old patient with atypical chronic myeloid leukemia. Ann Hematol 2020, 99:1145-1148.
  • Gadsbøll K, Petersen OB, Gatinois V, Strange H, Jacobsson B, Wapner R, Vermeesch JR; NIPT-map Study Group (including Liehr T) , Vogel I. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. Acta Obstet Gynecol Scand 2020; 99:722-730.
  • Garcia-Angulo A, Merlo MA, Itiga R, Rodriguez ME, Portella-Bens S, Al-Rikabi A, Liehr T, Rebordinos L. Gene clusters related to metamorphosis in Solea senegalensis are highly conserved. CPBD 2020, 35:100706.
  • Gupta S, Pungsrinont T, Ženata O, Neubert L, Vrzal R, Baniahmad A. Interleukin-23 represses the level of cell senescence induced by the androgen receptor antagonists enzalutamide and darolutamide in castration-resistant prostate cancer cells. Horm Cancer 2020;11:182-190.
  • Hamdaoui H, Natiq A, Benlarroubia O, Liehr T, Dehbi H, Loukhmas L, Chegdani F. Near tetrapoloid karyotype with translocation t(11;14) in a Moroccan patient with amyloid light-chain amyloidosis and multiple myeloma. Leuk Res Rep 2020, 14:100217.

  • Harutyunyan T, Al-Rikabi A, Sargsyan A, Hovhannisyan G, Aroutiounian R, Liehr T. Doxorubicin-induced translocation of mtDNA into the nuclear genome of human lymphocytes detected using a molecular-cytogenetic approach. Int J Mol Sci 2020; 21:7690.

  • Hübner CA, Dikic I. ER-phagy and human diseases. Cell Death Differ 2020, 27:833-842.

  • Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet 2020, 107:364-373.
  • Jayavelu AK, Schnöder TM, Perner F, Herzog C, Meiler A, Krishnamoorthy G, Huber N, Mohr J, Edelmann-Stephan B, Austin R, Brandt S, Palandri F, Schröder N, Isermann B, Edlich F, Sinha AU, Ungelenk M, Hübner CA, Zeiser R, Rahmig S, Waskow C, Coldham I, Ernst T, Hochhaus A, Jilg S, Jost PJ, Mullally A, Bullinger L, Mertens PR, Lane SW, Mann M, Heidel FH. Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms. Nature 2020, 588:157-163.
  • Joksic I, Liehr T, Toljic M, Karadzov-Orlic N, Milovanovic Z, Mikovic Z, Egic A. Prenatal ultrasonographic manifestations of partial trisomy 12q (12q24.2→qter) and partial monosomy 2q (2q37.3→2qter). Vojnosanit Pregl 2020, 77:754-757.
  • Jayavelu AK, Schnöder TM, Perner F, Herzog C, Meiler A, Krishnamoorthy G, Huber N, Mohr J, Edelmann-Stephan B, Austin R, Brandt S, Palandri F, Schröder N, Isermann B, Edlich F, Sinha AU, Ungelenk M, Hübner CA, Zeiser R, Rahmig S, Waskow C, Coldham I, Ernst T, Hochhaus A, Jilg S, Jost PJ, Mullally A, Bullinger L, Mertens PR, Lane SW, Mann M, Heidel FH. Splicing factor YBX1 mediates persistence of JAK2-mutated neoplasms. Nature 2020, 588:157-163.
  • Kokal M, Mirzakhani K, Pungsrinont T, Baniahmad A. Mechanisms of androgen receptor agonist- and antagonist-mediated cellular senescence in prostate cancer. Cancers (Basel) 2020, 12:E1833.
  • Kotolloshi R, Mirzakhani K, Ahlburg J, Kraft F, Pungsrinont T, Baniahmad A. Thyroid hormone induces cellular senescence in prostate cancer cells through induction of DEC1. J Steroid Biochem Mol Biol 2020, 201:105689.
  • Liehr T. Is molecular cytogenetic diagnostics of rare diseases in Europe close to extinction. J Genet Genom 2020, 4:2.
  • Manferrari M, Rincic M, Liehr T,  Azawi S. Cytogenomics of murine melanoma cell lines C57/B1 and B16-F0. MEBM 2020, 3: 39-44.
  • Mehmood S, Dad R, Ahmad A, Ullah MI, John P, Ali A, Hubner CA, Mohyuddin A, Hassan MJ. Structural and functional annotation of PR/SET Domain (PRDM) protein family: In-silico study elaborating role of PRDM12 mutation in congenital insensitivity to pain. Comput Biol Chem 2020, 89:107382.
  • Mendez Rosado LA, García D, Molina O, García A, de León N, Lantigua-Cruz A, Liehr T. Diagnostico citogenetico molecular en pacientes con trastornos del neurodesarrollo. Arch Argentin Pediat 2020, 118:52-55.
  • Molina WF, Costa GWWF, Cunha IMC, Bertollo LAC, Ezaz T, Liehr T, Cioffi MB. Molecular cytogenetic analysis in freshwater prawns of the genus Macrobrachium (Crustacea: Decapoda: Palaemonidae). Int J Mol Sci 2020, 21: E2599
  • Othman MAK, Đurišić M, Samardzija G, Vujić D, Lakic N, Zecevic Z, Al-Shaheri F, Aroutiounian R, Melo JB, Carreira IM, Meyer B, Liehr T. Complex karyotype with cryptic FUS gene rearrangement and deletion of NR3C1 and VPREB1 genes in childhood B-cell acute lymphoblastic leukemia: A case report.
    Oncol Lett 2020, 19:2957-2962.
  • Pensold D, Reichard J, Van Loo KMJ, Ciganok N, Hahn A, Bayer C, Liebmann L, Groß J, Tittelmeier J, Lingner T, Salinas-Riester G, Symmank J, Halfmann C, González-Bermúdez L, Urbach A, Gehrmann J, Costa I, Pieler T, Hübner CA, Vatter H, Kampa B, Becker AJ, Zimmer-Bensch G. DNA methylation-mediated modulation of endocytosis as potential mechanism for synaptic function regulation in murine inhibitory cortical interneurons. Cereb Cortex. 2020, 30:3921-3937.
  • Pilz RA, Schwefel K, Weise A, Liehr T, Demmer P, Spuler A, Spiegler S, Gilberg E, Hübner CA, Felbor U, Rath M. First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations. Sci Rep 2020, 10:6306. 
  • Pissaparn M, Phimphan S, Chaiyasan P, Tanoamtong A, Liehr T, Suwannapoom C, Reungsing M, Supiwong W. First chromosome analysis of Thai pufferfish Pao cochinchinensis (Steindachner, 1866). Biodiversitas 2020, 21:4309-4316.
  • Potlapalli BP , Schubert V, Metje-Sprink J, Liehr T, Houben A. Application of Tris-HCl allows the specific labelling of regularly prepared chromosomes by CRISPR-FISH. Cytogenet Genome Res 2020, 160:156-165.

  • Pungsrinont T, Sutter MF, Ertingshausen MCCM, Lakshmana G, Kokal M, Khan AS, Baniahmad A. Senolytic compounds control a distinct fate of androgen receptor agonist- and antagonist-induced cellular senescent LNCaP prostate cancer cells. Cell Biosci 2020, 10:59.

  • Refisch A, Chung HY, Komatsuzaki S, Schumann A, Mühleisen TW, Nöthen MM, Hübner CA, Bär KJ. A common variation in HCN1 is associated with heart rate variability in schizophrenia. Schizophr Res 2020, S0920-9964(20)30556-9.
  • Ribeiro IP, Carreira IM, Esteves L, Caramelo F, Liehr T, Melo JB. Chromosomal breakpoints in a cohort of head and neck squamous cell carcinoma patients. Genomics 2020, 112: 297-303.
  • Romero VI, Pozo JC, Saenz S, Llamos-Paneque A, Liehr T, Hosomichi K, Tajima A. A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14). Hum Genome Var 2020, 7:28.
  • Sassi FMC, Hatanaka T, Moraes RLR, Toma GA, Oliveira EA, Liehr T, Rab P, Bertollo LAC, Viana PF, Feldberg E, Nirchio M, Marinho MMF, Souza JFSE, Cioffi
    MB. An insight into the chromosomal evolution of Lebiasinidae (Teleostei, Characiformes). Genes (Basel) 2020, 11: E365
  • Sassi FdMC, Deon GA, Moreira-Filho O, Vicari MR, Bertollo LAC, Liehr T, Oliveira EAd, Cioffi MB. Multiple sex chromosomes and evolutionary relationships in amazonian catfishes: The outstanding model of the genus harttia (Siluriformes: Loricariidae). Genes 2020, 11:1179.
  • Schijven D, Stevelink R, McCormack M, van Rheenen W, Luykx JJ, Koeleman BPC, Veldink JH; Project MinE ALS GWAS Consortium (incl Hübner CA); International League Against Epilepsy Consortium on Complex Epilepsies. Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy. Neurobiol Aging 2020, 92:153.e1-153.e5.
  • Sheth H, Trivedi S, Liehr T, Patel K, Jain D, Sheth J, Sheth F. Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report. BMC Medical Genomics 2020, 13:141.
  • Shmukler BE, Rivera A, Bhargava P, Nishimura K, Kim EH, Hsu A, Wohlgemuth JG, Morton J, Snyder LM, De Franceschi L, Rust MB, Hubner CA, Brugnara C, Alper SL. Genetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia. Blood Cells Mol Dis. 2020, 81:102389.

  • Shmukler BE, Rivera A, Bhargava P, Nishimura K, Hsu A, Kim EH, Trudel M, Rust MB, Hübner CA, Brugnara C, Alper SL. Combined genetic disruption of K-Cl cotransporters and Gardos channel KCNN4 rescues erythrocyte dehydration in the SAD mouse model of sickle cell disease. Blood Cells Mol Dis. 2020; 81:102390.

  • Silvestre RT, Bravo M, Santiago F, Delmonico L, Scherrer L, Otero UB, Liehr T, Alves G, Chantre-Justino M, Ornellas MH. Hypermethylation in gene promoters are induced by chronic exposure to benzene, toluene, ethylbenzene and xylenes. Pak J Biol Sci 2020;23:518-525.
  • Sismani C, Rapti S-M, Iliopoulou P, Spring A, Neroutsou R, Lagou M, Robola M, Tsitsopoulos E, Kousoulidou L, Alexandrou A, Papaevripidou I, Theodosiou A, Syrrou M, Fuchs S, Hempel M, Huhle D, Liehr T, Ziegler M, Duesberg M, Velissariou V. Novel pericentric inversion inv(9)(p23q22.3) in unrelated individualswith fertility problems in the Southeast European population. J Hum Genet 2020, 65:783-795.
  • Slimani W, Jelloul A, Al-Rikabi A, Sallem A, Hasni Y, Chachia S, Ernez A, Chaieb A, Bibi M, Liehr T, Saad A, Mougou-Zerelli S. Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives. J Assist Reprod Genet 2020, 37:1729-1736.
  • Spangenberg V, Arakelyan M, Cioffi M, Liehr T, Al-Rikabi A, Martynova E, Stepanyan I, Danielyan F, Galoyan E, Kolomiets O. Cytogenetic mechanisms of unisexuality in rock lizards. Scient Rep 2020, 10:8697.
  • Spangenberg V, Kolomiets O, Stepanyan I, Galoyan E, Cioffi MdB, Martynova E, Martirosyan I, Grishaeva T, Danielyan F, Al-Rikabi A, Liehr T, Arakelyan M. Evolution of the parthenogenetic rock lizard hybrid karyotype: Robertsonian translocation between two maternal chromosomes in Darevskia rostombekowi.. Chromosoma 2020, 129:275-283.
  • Thielker J, Weise A, Othman MAK, Carreria IM, Melo JB, von Eggeling F, Guntinas-Lichius O, Ziegler M, Liehr T. Molecular cytogenetic pilot study on pleomorphic adenoma of salivary gland. Oncol Lett 2020, 19:1125-1130.
  • Trautmann C, Bock A, Urbach A, Hübner CA, Engmann O.  Acute vitamin B12 supplementation evokes antidepressant response and alters Ntrk-2. Neuropharmacology 2020, 171:108112.
  • Trautmann C, Burek D, Hübner CA, Girault JA, Engmann O. A regulatory pathway linking caffeine action, mood and the diurnal clock. Neuropharmacology 2020, 172:108133.
  • Velissariou V, Sachinidi F, Christopoulou S, Florentin L, Liehr T, Efthymiadou A, Angelopoulou E, Chrysis D, Stefanou EG. Low-level trisomy 14 mosaicism: A carrier of an isochromosome 14 and a supernumerary marker chromosome 14. Cytogenet Genome Res 2020, 160:664-670.
  • Viana P, Ezaz T, Cioffi M, Liehr T, Al-Rikabi A, Goll L, Rocha A, Feldberg E. Landscape of snake’ sex chromosomes evolution spanning 85MYR: Ancestry or co-opted sequences acquisition along their evolution? Scient Rep 2020, 10:12499
  • Viana PF, Feldberg E, Cioffi MB , de Carvalho VT, Menezes S, Vogt RC, Liehr T, Ezaz T. The amazonian red side-necked turtle Rhinemys rufipes (Spix, 1824) (Testudines, Chelidae) has a GSD sex-determining mechanism with an ancient XY sex microchromosome system. Cells 2020, 9:2088.
  • Viana PF, Ezaz T, Cioffi MdB, Liehr T, Al‐Rikabi A, Tavares‐Pinheiro R, Bertollo LAC, Feldberg E. Revisiting the karyotype evolution of neotropical boid snakes: A puzzle mediated by chromosomal fissions. Cells 2020, 9:2268.
  • Virtanen MA, Uvarov P, Hübner CA, Kaila K. NKCC1, an elusive molecular target in brain development: Making sense of the existing data. Cells. 2020, 9:E2607.
  • Volleth M, Zenker M, Joksic I, Liehr T. Long-term culture of EBV-induced human lymphoblastoid cell lines reveals chromosomal instability.
    J Histochem Cytochem 2020, 68:239-251.
  • Wafa A, Jarjour RA, Aljapawe A, ALmedania S, Liehr T, Melo JB, Carreira IM, Othman MAK, Al-Achkar W. An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case. Mol Cytogenet 2020; 13:29.
  • Wafa A, Moassass F, Almedani S, Liehr T, Wilhelm K, As'sad M, Knippenberg S, Glaubitz R, Jarjour RA, Al Achkar WA. A novel heterozygous variant in exon 32 of the CHD7 gene (c.6923C>T) in a Syrian family with Kallmann syndrome. Res Results Biomed 2020, 6:154-159.
  • Wafa A, Jarjour RA, Alolabi D, Liehr T, Hamdan O, Melo JB, Carreira IM, Othman MAK, Al‑Achkar W. A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome. Mol Cytogenet 2020, 13:44.
  • Wahlbul E, Liehr T, Rincic M, Azawi S. Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines. Mol Cytogenet 2020, 13:43.
  • Zamariolli M, Di-Battista A, Moyses-Oliveira M, de Mello CB, Ramos MA, Liehr T, Melaragno MI . Disruption of PCDH10 and TNRC18 genes due to a balanced translocation. Cytogenet Genome Res 2020, 160:321-328.
  • Ziller N, Kotolloshi R, Esmaeili M, Liebisch M, Mrowka R, Baniahmad A, Liehr T, Wolf G, Loeffler I. Sex differences in diabetes- and TGF-β1-induced renal damage. Cells 2020, 9:2236.
  • Zlotina A, Maslova A, Pavlova O, Kosyakova N, Al-Rikabi A, Liehr T, Krasikova A. New insights into chromomere organization provided by lampbrush chromosome microdissection and high-throughput sequencing. Frontiers in Genetics 2020, 11:57.
  • Žukovskaja O, Ryabchykov O, Straßburger M, Heinekamp T, Brakhage AA, Hennings CJ, Hübner CA, Wegmann M, Cialla-May D, Bocklitz TW, Weber K, Popp J. Towards Raman spectroscopy of urine as screening tool. J Biophotonics 2020, 13:e201900143.

 

Bücher/ Books

 
 

T Liehr. Human Genetics – Edition 2020: A Basic Training Package. Epubli 2020. ISBN: 978-3750276123.

 
 

T Liehr. Humangenetik – Edition 2020: Eine grundlegende Trainingseinheit. Epubli 2020. ISBN: 978-3750276154.

 
 

T Liehr, T Harutyunyan, G Hovhannisyan. Մարդու գենետիկայի հիմունքները (Basics of human genetics - Armenisch). Ed. R Aroutiounian Yerevan Univ. Press 2020.