Results 221 to 230 of about 255,701 (284)

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

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
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

Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in <i>NLRP3</i> in a previously healthy middle-aged woman. [PDF]

Front Immunol
Cho SI, Kim S, Kim JY, Kim JW, Pyeon S, Lee WW, Park JK.   +6 more
europepmc   +1 more source

<i>De novo</i> missense mutation in <i>MYT1l</i> leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report. [PDF]

Front Pediatr
Wang X, Lin S, Chen Y, Qi Y, Sun X, Wang W, Jiang K.   +6 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

<i>PROS1</i> (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report. [PDF]

Front Cardiovasc Med
Huang J, Zhang Y, Yu H, Liu W.
europepmc   +1 more source

The Pathogenic Mechanism of a <i>De Novo</i> Missense Mutation F224S in <i>GABRB2</i> Causes Epileptic Encephalopathy and Developmental Delay

Pingping Li, Yue-Yuan Zhou, Li Gao, Jia-Nan Lv, Shishi Xu, Yanwen Zhao, Di Xu, Ruoke Huang, Xiong Zhang, Peijun Li, Zhiyong He, Xiaoqin Fu   +11 more
openalex   +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

A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.

J Clin Endocrinol Metab
Weng R, Li X, Yue H, Xu Y, Wei Z, Xu S, Li B, Zhang Z.   +7 more
europepmc   +1 more source