Results 261 to 270 of about 65,694 (343)

In‐Tumor CRISPR‐Cas9 Knockout Screening and Novel Therapy Development for Malignant Transformation of Ovarian Teratoma

open access: yesCancer Science, EarlyView.
We conducted an in vivo genome‐wide CRISPR‐Cas9 knockout screen using MTMCT‐derived cells to identify genes essential for tumor growth. SOD1 emerged as a key therapeutic target, and its inhibition suppressed tumor proliferation by disrupting redox homeostasis, both in vitro and in PDX models. ABSTRACT Malignant transformation of mature cystic teratoma (
Satoshi Tamauchi   +8 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

open access: yesClinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil   +9 more
wiley   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

open access: yesClinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald   +10 more
wiley   +1 more source

Transcription Factor TCF12‐Mediated Maternal Gene Expressions in Mouse Oocyte Are Prerequisites of Successful Fertilisation and Zygotic Genome Activation

open access: yesCell Proliferation, EarlyView.
Maternal TCF12 ensures the competence of fertilisation by controlling the expression of Astl and the proper location of cortical granules. Furthermore, maternal TCF12 maintains the phosphatase activity of PP2A by regulating the expression of Arpp19. Oocyte‐specific deletion of Tcf12 leads to fertilisation defects as well as ZGA failure at the 2‐cell ...
Lan‐Rui Cao   +7 more
wiley   +1 more source

Liquid–Liquid Phase Separation in Major Hallmarks of Cancer

open access: yesCell Proliferation, EarlyView.
Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie   +10 more
wiley   +1 more source

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