Results 191 to 200 of about 49,281 (297)

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

Cell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh, Lidiia Plotnikova, Teemu Tiukuvaara, Reetta Kälviäinen, Riikka H. Hämäläinen   +4 more
wiley   +1 more source

Single sperm karyotyping of testicular sperm in non-obstructive and obstructive azoospermia using next generation sequencing. [PDF]

PLoS One
Sueyoshi S, Ijuin A, Ueno H, Miyakoshi A, Hamada H, Toda M, Tsuchiya N, Tanoshima M, Kurumizaka M, Saito M, Oike Y, Takeshima K, Takeshima T, Kuroda S, Yumura Y, Saito S, Asano R, Mizushima T, Miyagi E, Sakakibara H, Kurahashi H, Yanagihara A, Murase M, Hayama T.   +23 more
europepmc   +1 more source

Karyotyping [PDF]

, 2020
openaire   +1 more source

A Rare Case of Cutaneous Extramedullary Hematopoiesis in Chronic Myeloid Leukemia

Journal of Cutaneous Pathology, EarlyView.
ABSTRACT Cutaneous extramedullary hematopoiesis (CEH) is a rare manifestation of extramedullary hematopoiesis (EMH), a process typically associated with fetal development or myeloproliferative neoplasms. EMH most commonly involves the spleen, liver, and lymph nodes, with CEH being exceedingly rare in chronic myeloid leukemia (CML).
Bennett Christie‐Nguyen, Hanadi El Achi, Levani Iashvili, Amer Wahed, Brenda Mai, Jacob Armstrong   +5 more
wiley   +1 more source

Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period. [PDF]

Arch Gynecol Obstet
Feodorovici K, Klinkhammer H, Strizek B, Gembruch U, Geipel A.   +4 more
europepmc   +1 more source

Buffy Coat Enrichment Improves the Success Rate of Conventional Cytogenetics in Hypocellular Specimens: A Prospective Quality Improvement Study. [PDF]

Genes (Basel)
Toruner GA, Imtiaz N, McCoy AM, Robinson M, Cardona GJ, Delgado SS, Yang S, Wei Q, Medeiros LJ, Tang G.   +9 more
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Near-Comparable Frequency of rob(21;21) and rob(14;21) Translocations in Trisomy 21: A Retrospective Cytogenetic Analysis of 9,313 Cases From an Indian Referral Cohort. [PDF]

Cureus
Kunda S, Kasaragadda M, Patibandla S, Singh S, Parvez S, Rao Golla T.   +5 more
europepmc   +1 more source

Karyotyp [PDF]

, 2018
openaire   +1 more source

Plasma Elastase Screening in Hematological Disease Reveals Its Potential as a Diagnostic and Prognostic Biomarker in Hematological Malignancies

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Neutrophil‐extracellular traps are net‐like material released by triggered neutrophils and composed of decondensed chromatin linked to nuclear proteins. Elastase, one of the fourth most represented neutrophil‐specific serine proteases stored in azurophil granules of naïve neutrophils, exerts various actions, including degradation ...
Pasqualina Scala, Anna Maria Della Corte, Angela Bertolini, Marisa Gorrese, Francesca Picone, Bianca Serio, Danilo De Novellis, Laura Mettivier, Luca Pezzullo, Maria Carmen Martorelli, Denise Morini, Matteo D'Addona, Bianca Cuffa, Carmine Selleri, Valentina Giudice   +14 more
wiley   +1 more source