Results 61 to 70 of about 22,210,683 (294)

Case report: A novel intronic JMJD6 likely pathogenic variant (c.941+75G > T) associated with congenital eyelid coloboma in one of the identical twin sisters

open access: yesFrontiers in Genetics
BackgroundCongenital eyelid coloboma (CEC) is a rare genetic disease, manifesting as a congenital partial or total defect of the eyelid. In this study, we report a pedigree with CEC caused by a novel pathogenic variant in JMJD6.Case reportThe proband was
Xin Li   +4 more
doaj   +1 more source

Karyotypic Characteristics and Genetic Relationships of Apricot Accessions from Different Ecological Groups

open access: yesJournal of the American Society for Horticultural Science, 2020
The present study aims to reveal the karyotypic characteristics and genetic relationships of apricot (Prunus armeniaca L.) accessions from different ecological groups.
Wenwen Li   +7 more
doaj   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

open access: yesAdvanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni   +17 more
wiley   +1 more source

Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery

open access: yesAdvanced Science, EarlyView.
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li   +9 more
wiley   +1 more source

Karyotype analysis of Aeluropus species (Poaceae)

open access: yesTurczaninowia, 2021
Aeluropus, a member of Poaceae subfam. Chloridoideae, includes six species, three of which occur in Iran. They are perennial halophytes of deserts and coastal marshlands of Iran.
Марьям Кешаварзи   +2 more
doaj   +1 more source

Homologies in human and Macasa fuscata chromosomes revealed by in situ suppression hybridization with human chromosome specific DNA libraries [PDF]

open access: yes, 1992
We established chromosomal homologies between all chromosomes of the human karyotype and that of an old world monkey (Macaca fuscata) by chromosomal in situ suppression (CISS) hybridization with human chromosome specific DNA libraries.
Stanyon, Roscoe   +3 more
core   +1 more source

Loss of CYLD on Chromosome 16q Impairs Homologous Recombination and Genomic Stability Through TIRR Degradation

open access: yesAdvanced Science, EarlyView.
Chromosome 16q loss drives genomic instability through disruption of the CYLD–TIRR–53BP1 axis. CYLD preserves homologous recombination by stabilizing TIRR and limiting 53BP1 accumulation at DNA double‐strand breaks. CYLD deficiency redirects repair toward error‐prone non‐homologous end joining, promotes mutational burden and homologous recombination ...
Mingming Lu   +14 more
wiley   +1 more source

Expanding Genetic Code to Generate Human Brain Organoids with Both Vasculature and Microglia‐Like Cells

open access: yesAdvanced Science, EarlyView.
Using genetic code expansion, we engineered vascularized human cerebral organoids (vhCOs) with microglia‐like cells and blood‐brain barrier features. vhCOs recapitulate neurovascular interactions, regional identities, and neuronal subtypes resembling the fetal brain.
Haishuang Lin   +7 more
wiley   +1 more source

Comparaison de deux techniques d'identification des souches de levures de vinification basées sur le polymorphisme de l'ADN génomique: réaction de polymérisation en chaine (PCR) et analyse des caryotypes (électrophorèse en champ pulsé)

open access: yesOENO One, 1994
Une nouvelle technique de la biologie moléculaire, la réaction de polymérisation en chaine (PCR) permet l'identification des souches de levures de vinification.
Isabelle Masneuf-Pomarède   +1 more
doaj   +1 more source

New fusion transcripts identified in normal karyotype acute myeloid leukemia. [PDF]

open access: yesPLoS ONE, 2012
Genetic aberrations contribute to acute myeloid leukemia (AML). However, half of AML cases do not contain the well-known aberrations detectable mostly by cytogenetic analysis, and these cases are classified as normal karyotype AML.
Hongxiu Wen   +14 more
doaj   +1 more source

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