Results 71 to 80 of about 1,678 (140)

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Investigations into the genetic causes of liver disease using molecular genetic technologies [PDF]

, 2016
DNA sequencing technologies have developed quickly in the last decade, and new methodologies have moved into clinical practice. These can been used to investigate genetic causes of neonatal cholestasis.
McKay Bounford, Kirsten Elizabeth
core   +5 more sources

Figure S2 from CD71⁺ Population Enriched by HPV-E6 Protein Promotes Cancer Aggressiveness and Radioresistance in Cervical Cancer Cells

, 2019
Sequencing analysis was also performed for two predicted off-target genes (SLC25A13 and TECTB) in F99 and J76 cells.
Thomas Ho-Yin Leung (14871182), David Wai Chan (15080740), Annie Nga-Yin Cheung (15080746), Michelle Kwan-Yee Siu (15080737), Karen Kar-Loen Chan (15080743), Hextan Yuen-Sheung Ngan (15080749), Hermit Wai-Man Tang (15080734)   +6 more
core   +1 more source

Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

BMC Pediatrics, 2020
Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation.
Yiming Lin, Weihua Lin, Yanru Chen, Chunmei Lin, Zhenzhu Zheng, Jianlong Zhuang, Qingliu Fu   +6 more
doaj   +1 more source

The Preservation of Muscle Mitochondrial Machinery During Hypometabolic Hibernation in Scandinavian Brown Bears (Ursus arctos)

Acta Physiologica, Volume 242, Issue 4, April 2026.
ABSTRACT Aim Unlike humans, brown bears (Ursus arctos) uniquely preserve skeletal muscle mass and function during months of hibernation despite prolonged fasting and inactivity. We investigated how mitochondrial energetics respond in skeletal muscle to support this remarkable resilience.
Audrey Bergouignan, John Noone, Charlotte Brun, Laura Cussonneau, Alexandre Geffroy, Cecile Coudy‐Gandilhon, Isabelle Chery, Alina Lynn Evans, Jon Martin Arnemo, Jonas Kindberg, Guillemette Gauquelin‐Koch, Donal O'Gorman, Etienne Lefai, Fabrice Bertile   +13 more
wiley   +1 more source

Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.

, 2018
Distal enhancers are thought to play important roles in the spatiotemporal regulation of gene expression during embryonic development, but few predicted enhancer elements have been shown to affect transcription of their endogenous genes or to alter ...
Michael V Wiles, Gagnon, Leona H, Amy E Kiernan, Longo-Guess, Chantal M, Low, Benjamin E, Leona H Gagnon, Chantal M Longo-Guess, Wiles, Michael V, Benjamin E Low, Kiernan, Amy E, Tian, Cong, Kenneth R Johnson, Cong Tian, Johnson, Kenneth R   +13 more
core   +1 more source

A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation

, 2014
Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatalonset type II citrullinemia (CTLN2), also known as ...
손, 영배, 이, 수연, 장, 주영, 박, 형두   +3 more
core   +1 more source

High body-mass index and multiple myeloma risk: insights from the global burden of disease 2021 study and identification of core target genes

Hematology
Background: High Body mass index (BMI) is a well-established risk factor for various hematological malignancies. However, the relation and mechanism between high BMI and multiple myeloma remain largely unknown.Methods: This study investigates the global ...
Li Zhou, Yingzhe Zhang, Jiwei Li
doaj   +1 more source

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

, 2006
Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) & idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 & 103 (4) NICCD patients in Japan (and other countries). From preliminary population
Kobayashi, Keiko; Lu, Yao Bang; Li, Meng Xian; Nishi, Ikumi; Hsiao, Kwang-Jen; Choeh, Kyuchul; Yang, Yanling; Hwu, Wuh-Liang; Reichardt, Juergen K.V.; Palmieri, Ferdinando; Okano, Yoshiyuki; Saheki, Takeyori
core  

An investigation into the roles of aspartate/glutamate transporters in glioma [PDF]

Sadly, only 25% of patients diagnosed with glioblastoma (GBM) survive for longer than 12 months. GBM, like most solid tumours, is characteristically hypoxic, which leads to a metabolic rewiring in cancer cells.
Rana, Himani
core   +3 more sources