Results 191 to 200 of about 247,558 (284)

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +1 more source

BMI and Breast Subcutaneous Fat

Journal of Ultrasound in Medicine, EarlyView.
Objectives Obesity is closely associated with the occurrence and progression of breast cancer. While body mass index (BMI) is widely used to diagnose obesity, it has certain limitations. Subcutaneous fat thickness (SFT) also serves as an indicator of body composition. However, studies on breast SFT are scarce.
Shiyu Wang, Jin Zhou, Yunxia Huang, Dongdong Zheng, Ruoqing Hou, Shichong Zhou   +5 more
wiley   +1 more source

Novel compound heterozygous <i>ALPK3</i> mutations (c.4234C>T and c.3491G>A), causing hypertrophic cardiomyopathy treated with the liwen procedure: case report. [PDF]

Front Cardiovasc Med
Liu WJ, Hua Y, Jiao FH, Hu HY, Xu WJ, Wang YN, Duan LP, Zhao XF, Zhang RJ, Chang C.   +9 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft. [PDF]

Hum Mutat
Ranji P, Pairet E, Helaers R, Brouillard P, Bayet B, Gerdom A, Revencu N, Vikkula M.   +7 more
europepmc   +1 more source

A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation [PDF]

, 2019
Ahmed, Alia, Chen, Agnes, Dickson, Patricia, Eisengart, Julie B, King, Kelly, Ou, Li, Rudser, Kyle, Shapiro, Elsa, Whitley, Chester B   +8 more
core   +1 more source

Non-small cell lung carcinoma with co-expression of thyroid transcription factor-1 and p40: a case report and literature review. [PDF]

World J Surg Oncol
Wei C, Wang Y, Lu W, Lin BY, Gan D, Lu Y.   +5 more
europepmc   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Mitapivat therapy in a patient with nonsense homozygous mutation of the Pyruvate Kinase L/R gene: a case report. [PDF]

Blood Transfus
Ceglie S, Valentini CG, Pellegrino C, Massini G, Teofili L.   +4 more
europepmc   +1 more source

CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling

Med Research, EarlyView.
CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li, Peixin Huang, Yue Qian, Anqi Lin, Jingjun He, Junyi Shen, Li Chen, Kai Miao, Jian Zhang   +8 more
wiley   +1 more source