Results 201 to 210 of about 68,433 (279)

Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel, Jacob Ellegood, Jason P. Lerch, Nathalie G. Bérubé   +3 more
wiley   +1 more source

Intrachromosomal insertion as a diagnostic challenge: a hidden structural rearrangement causing recurrent duplication and deletion. [PDF]

Mol Cytogenet
Kawamura R, Shichiri Y, Suzuki H, Murase Y, Naru Y, Hara T, Tsuboi A, Satano H, Sugihara E, Kurahashi H.   +9 more
europepmc   +1 more source

APOE genotype and the effect of statins on lipid outcomes: A meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Aim APOE genotype may affect statin therapy response. We conducted a meta‐analysis to update and quantify this association across various outcomes. Methods We searched seven databases (MEDLINE, Scopus, Web of Science, the Cochrane Library, APA PsycINFO, CINAHL Plus and ClinicalTrials.gov) on 9 May 2024.
Innocent G. Asiimwe, Tsegay Gebru, Andrea L. Jorgensen, Munir Pirmohamed, on behalf of the Multimorbidity Mechanism and Therapeutics Research Collaborative   +4 more
wiley   +1 more source

Application of chromosomal microarray analysis and trio whole-exome sequencing in first-trimester prenatal diagnosis for high-risk pregnancies. [PDF]

BMC Pregnancy Childbirth
Zhang Q, Cheng Y, Tang J, Li J, Cao Y, Huang D, Wang S, Zhu J.   +7 more
europepmc   +1 more source

Sex Offenses: The Medical and Legal Implications of Sex Variations [PDF]

, 1960
Bowman, Karl M., Engle, Bernice
core   +1 more source

The evolving therapeutic landscape of spinal muscular atrophy – A scoping review of investigational agents, emerging delivery technologies and strategic innovations

British Journal of Clinical Pharmacology, EarlyView.
Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić, Patrick Eustaquio, Elvira Meni Maria Gkrinia, Ivana Stević, Eugen Javor, Yun Wah Lam, Slobodan Janković, Dinko Vitezić   +7 more
wiley   +1 more source

Chromosomal abnormality of acute promyelocytic leukemia other than PML-RARA: a case report of acute promyelocytic leukemia with del(5q). [PDF]

BMC Clin Pathol, 2016
Imataki O, Uemura M.
europepmc   +1 more source

[Book Review of] \u3cem\u3ePrenatal Diagnosis and Selective Abortion\u3c/em\u3e, by Harry Harris [PDF]

, 1976
Jefferson, M. F.
core   +1 more source

Ultrasmall Fe‐curcumin immunomodulators reinvigorate CAR‐T cells to potentiate solid tumor immunotherapy by mitigating cell exhaustion and senescence

BMEMat, EarlyView.
This work discovered a novel research that ultrasmall Fe‐curcumin immunomodulators could reinvigorate CAR‐T cells to potentiate solid tumor immunotherapy by mitigating cell exhaustion and senescence. Abstract CAR‐T cell immunotherapy has achieved exciting success in hematologic malignancies, but the therapeutic efficacy is relatively limited in solid ...
Jiazhi Duan, Yuchan Xue, Miao Zhang, Zihao Zhang, Shiyu Peng, Minghao Sui, Han Ding, Yingying Nie, Yuemin Feng, Le Wang, Tianru Zhang, Mingchuan Yu, He Xia, Hong Liu, Qiang Zhu, Songbo Zhao   +15 more
wiley   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source