Results 191 to 200 of about 61,504 (314)

Compound heterozygous loss‐of‐function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome

Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023
Trio‐based whole‐exome sequencing (WES) and Sanger sequencing identified a novel splicing mutation c.431‐2A>G and a heterozygous truncating mutation c.1359_1361del in BRAT1 in the proband. In addition, our research demonstrated the intronic mutation could lead to aberrant mRNA splicing and further contributed to a better understanding and establishment
Shan Li, Shunan Yu, Yanzhuo Zhang, Ying Wang, Xu Jiang, Chengai Wu   +5 more
wiley   +1 more source

Diseases of the Biliary Tract and Pancreas in the Aged. Results Obtained by Investigation of the Autopsy Cases.

, 2000
Wataru Kimura
openalex   +2 more sources

Could Duodenal Molecular Mechanisms be Involved in the Hypocholesterolemic Effect of Silicon Used as Functional Ingredient in Late‐Stage Type 2 Diabetes Mellitus?

Molecular Nutrition &Food Research, Volume 66, Issue 24, December 2022., 2022
Duodenal mucosa in early‐stage type 2 diabetes mellitus (ED), late‐stage type 2 diabetes mellitus injected with streptozotocin‐nicotinamide (STZ/NAD) (LD) and treated‐silicon LD (LD‐Si) groups. Silicon partially reversed LD group alterations: decreased absorptive area and acyl‐Coenzyme A:cholesterol acyltransferase 2 (ACAT2) levels, and increased ...
Marina Hernández‐Martín, Aránzazu Bocanegra, Rocío Redondo‐Castillejo, Adrián Macho‐González, Francisco J. Sánchez‐Muniz, Juana Benedí, Sara Bastida, Rosa A. García‐Fernández, Alba Garcimartín, M. Elvira López‐Oliva   +9 more
wiley   +1 more source

Endoscopic Ultrasound and Intraductal Ultrasound in the Diagnosis of Biliary Tract Diseases: A Narrative Review. [PDF]

Diagnostics (Basel)
Nakahata A, Yamashita Y, Kitano M.
europepmc   +1 more source

Good cholesterol, bad cholesterol: Role of oxysterols in biliary tract diseases

, 2001
David Q.‐H. Wang, Nezam H. Afdhal
openalex   +1 more source

Biliary tract cancers: systemic therapy for advanced disease

, 2020
Francisco Javier Martinez, Rachna T. Shroff   +1 more
openalex   +2 more sources

Ultrasound in biliary tract disease. [PDF]

BMJ, 1981
openaire   +3 more sources

Therapeutic targeting of chromatin alterations in leukemia and solid tumors

International Journal of Cancer, EarlyView.
Abstract Alterations in chromatin conformation and post‐translational modification of histones have become increasingly recognized as critical drivers of cancer development, progression, and therapy resistance. Recent advances in drug development have led to the establishment of several highly selective small molecule inhibitors, several of which are ...
Florian Perner, Tobias Berg, Daniel Sasca, Sophie‐Luise Mersiowsky, Jayant Y. Gadrey, Johanna Thomas, Michael W. M. Kühn, Michael Lübbert   +7 more
wiley   +1 more source

Features of biliary tract diseases in ketamine abusers: a systematic review of case reports. [PDF]

J Med Case Rep
Teymouri A, Nasoori H, Fakheri M, Nasiri A.   +3 more
europepmc   +1 more source

The estrobolome: Estrogen‐metabolizing pathways of the gut microbiome and their relation to breast cancer

International Journal of Cancer, EarlyView.
Abstract Increasing evidence links the gut microbiome to carcinogenesis. Disruptions in estrogen regulation by the estrobolome—gut microbiota with estrogen‐related functions—may promote breast cancer. However, precise information on estrobolome targets and their underlying mechanisms is limited. This review identifies relevant targets for measuring the
Ashley H. Larnder, Amee R. Manges, Rachel A. Murphy   +2 more
wiley   +1 more source