Results 21 to 30 of about 2,676,573 (175)

Prevalence of common autosomal recessive and X-linked conditions in pregnant women in Vietnam: a cross-sectional study [PDF]

Scientific Reports
The prevalence of recessive disorder carriers among Vietnamese women is still indistinct. This study aims to assess the prevalence of carriers for common autosomal recessive and X-linked conditions among Vietnamese pregnant women and to identify common ...
Trang Thi Nguyen, Ha Thu Thi To, Anh Ngoc Thi Le, Anh Quang Pham, Nhu Duc Nguyen, Hao Huu Ha, Huyen Thi Vu, Thanh Thai Hoang, Minh Cong Tran   +8 more
doaj   +2 more sources

Dual Urea Cycle Dysfunction Caused by Coexisting Argininosuccinic Aciduria and Citrin Deficiency: Clinical, Biochemical, and Molecular Insights From an Exceptional Case. [PDF]

JIMD Rep
ABSTRACT Dual inherited defects affecting urea cycle function are exceptionally rare. We report the first case, to our knowledge, of the coexistence of argininosuccinic aciduria (ASA) and citrin deficiency (CD). A girl born to consanguineous Tunisian parents presented at 6 months of age with recurrent seizures, vomiting, developmental delay, and severe
Zribi M, Bhouri M, Khatrouch S, Boudabous H, Häberle J, Abdelmoula MS, Chehida AB.   +6 more
europepmc   +2 more sources

Mitochondrial Carrier SLC25A13 Drives Ferroptosis Resistance and Immune Evasion via a STAT3-IFI6 Circuit in Breast Cancer. [PDF]

Adv Sci (Weinh)
SLC25A13 is identified as an immunometabolic driver of triple‐negative breast cancer that sustains ferroptosis resistance and immune evasion through a STAT3–IFI6 circuit. Pharmacologic degradation of SLC25A13 restores ferroptosis sensitivity and enhances anti‐PD‐1 efficacy, highlighting a strategy to convert immune‐cold tumors into immunotherapy ...
Zhu Y, Tang Y, Chen Y, Zhang Z, Lu Y, Wang X, Shi Q, Zhao W, Pang H.   +8 more
europepmc   +2 more sources

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China [PDF]

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
Background:The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes such as Adult-onset Citrullinemia Type II (CTLN2) and Neonatal Intrahepatic Cholestasis caused by
Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, Saheki, Takeyori, Ma, Yan-Li, Ngu, Lock-Hock, He, Xiang-Ling, Sunada, Yoshihide, Nakatomi, Akiko, Zhang, Zhan-Hui, Lin, Wei-Xia, Song, Yuan-Zong, Deng, Mei, Soneda, Shun, Dateki, Sumito, Kobayashi, Keiko, Zhao, Xin-Jing   +16 more
openaire   +2 more sources

Identification of Novel Mutations in Chinese Infants With Citrullinemia

Frontiers in Genetics, 2022
Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate
Zhi Cheng, Zhi Cheng, Xiwen He, Fa Zou, Zhen-E Xu, Zhen-E Xu, Chun Li, Chun Li, Hao Liu, Jingkun Miao   +9 more
doaj   +1 more source

Citrullinemia type II accompanied by mental derangement combined with multidrug resistance 3 decrease, case report

Heliyon, 2023
Background: Here we report a rare case of citrullinemia type II (CTLN2) accompanied by mental derangement with a deficiency of multidrug resistance 3 (MDR3) in the liver. Case presentation: The clinical data of a 17-year-old girl were collected.
Hong Zhao, Xia Yu, Jinlin Cheng, Deying Chen, Qiaomai Xu, Jifang Sheng, Yu Shi   +6 more
doaj   +1 more source

Fatal Non-Hepatic Hyperammonemia Post-Glofitamab: Ureaplasma and Genetic Susceptibility: A Case Report. [PDF]

Immun Inflamm Dis
ABSTRACT Background Although primarily reported in solid organ transplant recipients and patients undergoing chimeric antigen receptor T‐cell immunotherapy (CAR‐T), non‐hepatic hyperammonemia (NHHA) is a rare but lethal complication in the broader context of post‐ chemo‐immunotherapy hematologic malignancies.
Wu Y, Guo X, Wang X, Guo F.
europepmc   +2 more sources

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family. [PDF]

Protein Sci
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Palmer CS, Leeming PJ, Stojanovski D.
europepmc   +2 more sources

Germline variants predictive of tumor mutational burden and immune checkpoint inhibitor efficacy

iScience, 2021
Summary: High tumor mutational burden (TMB) is associated with response to checkpoint blockade in several cancers. We identify pathogenic germline variants associated with increased TMB (GVITMB).
Ajay Chatrath, Aakrosh Ratan, Anindya Dutta   +2 more
doaj   +1 more source

Adult-onset citrullinaemia type II with liver cirrhosis: A rare cause of hyperammonaemia

Open Medicine, 2021
Adult-onset citrullinaemia type II (CTLN2) is a rare disease in Chinese patients. As a subtype of citrin deficiency (CD), it is an autosomal recessive disease related to the SLC25A13 mutation on chromosome 7q21.3. In this study, we report a case of CTLN2
Chen Pingrun, Gao Xin, Chen Bin, Zhang Yan   +3 more
doaj   +1 more source