Results 61 to 70 of about 158,249 (312)

Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation

Clinical Case Reports, 2023
Key Clinical Message Balanced reciprocal chromosomal translocation carriers will have greater risk to experience recurrent miscarriages, embryonic death, and infertility. We show the pedigree carrying a paternal karyotype which was reported first.
Chunyan Jin, Xuefang Li, Jiao Chen, Zhiping Gu, Tianhui Xu   +4 more
doaj   +1 more source

Nuclear pore links Fob1‐dependent rDNA damage relocation to lifespan control

FEBS Open Bio, EarlyView.
Damaged rDNA accumulates at a specific perinuclear interface that couples nucleolar escape with nuclear envelope association. Nuclear pores at this site help inhibit Fob1‐induced rDNA instability. This spatial organization of damage handling supports a functional link between nuclear architecture, rDNA stability, and replicative lifespan in yeast.
Yamato Okada, Mina Iwaki, Kyosuke Hagiri, Rei Izumi, Masahiko Harata, Chihiro Horigome   +5 more
wiley   +1 more source

Asthenozoospermia in a patient with reciprocal translocation t(12;15): A case report

Urology Case Reports
Reciprocal translocation is a chromosomal aberration where fragments are exchanged between two non-homologous chromosomes. Its prevalence is estimated at 0.16–0.2 % in the general population, rising to 1.3 % among infertile men.
Tea Mladenić, Anita Barišić, Ivan Vukelić, Antun Gršković, Nada Starčević Čizmarević, Jadranka Vraneković   +5 more
doaj   +1 more source

A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization

Journal of the Formosan Medical Association, 2013
Patients with chromosomal translocation are highly vulnerable to produce unbalanced gametes that result in recurrent miscarriages, affected offspring, or infertility.
Chu-Chun Huang, Li-Jung Chang, Yi-Yi Tsai, Chia-Cheng Hung, Mei-Ya Fang, Yi-Ning Su, Hsin-Fu Chen, Shee-Uan Chen   +7 more
doaj   +1 more source

The T-cell oncogenic protein HOX11 activates Aldh1 expression in NIH 3T3 cells but represses its expression in mouse spleen development [PDF]

, 1998
Hox11 is a homeobox gene essential for spleen formation in mice, since atrophy of the anlage of a developing spleen occurs in early embryonic development in Hox11 null mice.
Greene, W.K., Bahn, S., Masson, N., Rabbitts, T.H.   +3 more
core   +2 more sources

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism [PDF]

Korean Journal of Pediatrics, 2016
We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay.
Young-Jin Choi, Eunsim Shin, Tae Sik Jo, Jin-Hwa Moon, Se-Min Lee, Joo-Hwa Kim, Jae-Won Oh, Chang-Ryul Kim, In Joon Seol   +8 more
doaj   +1 more source

Metaphase and Interphase Cytogenetics with Alu-PCR-amplified Yeast Artificial Chromosome Clones Containing the BCR Gene and the Protooncogenes c-raf-1, c-fms, and c-erbB-21 [PDF]

, 1992
A human yeast artificial chromosome (YAC) library was screened by polymerase chain reaction with oligonucleotide primers defined for DNA sequences of the BCR gene and the protooncogenes c-raf-1, c-fms, and c-erB-2.
Becher, Reinhard, Cremer, Thomas, Green, Eric D., Konecki, David, Lengauer, Christoph, Olson, Maynard V., Riethman, Harold C., Speicher, Michael R., Taniwaki, Masafumi   +8 more
core  

Array comparative genomic hybridization and flow cytometry analysis of spontaneous abortions and mors in utero samples [PDF]

, 2009
Background: It is estimated that 10-15% of all clinically recognised pregnancies result in a spontaneous abortion or miscarriage. Previous studies have indicated that in up to 50% of first trimester miscarriages, chromosomal abnormalities can be ...
Björn Menten, Katrien Swerts, Barbara Delle Chiaie, Sandra Janssens, Karen Buysse, Jan Philippé, Frank Speleman, T Hassold, V Jobanputra, M Goddijn, KA Bell, B Lomax, J Menasha, DL Bruno, D Diego-Alvarez, D Diego-Alvarez, DN Azmanov, M Daniely, B Fritz, Y Hu, A Kallioniemi, AC Tabet, J Berezowsky, B Menten, D Pinkel, S Solinas-Toldo, B Menten, K Benirschke, M Benkhalifa, M Nagaishi, AJ Schaeffer   +30 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source