Results 111 to 120 of about 338,983 (344)

An unusually mild case of biotin-thiamine-responsive basal ganglia disease

, 2023
Gurnoor Lail, Susan Blasér, Michal Inbar‐Feigenberg   +2 more
openalex   +1 more source

Sabotaged Integral HSC Heterogeneity Underlies Essential Thrombocythemia Development

Advanced Science, EarlyView.
Single‐cell RNA sequencing (scRNA‐seq) maps how distinct driver mutations remodel hematopoietic stem cell (HSC) programs across essential thrombocythemia (ET). Comparative analysis uncovers both shared and subtype‐specific molecular signatures, identifies a triple‐negative (TN)‐associated HSC population enriched with malignant traits, and reveals the ...
Jingyuan Tong, Di Wang, Haoze Song, Ting Sun, Yanhong Zhao, Wenjing Gu, Lexuan Lin, Yitong Zhao, Yipeng Liang, Xu Jin, Rongfeng Fu, Mankai Ju, Jie Gao, Jinfa Ma, Chengjie Gao, Anqi Zhang, Zhijian Xiao, Erlie Jiang, Renchi Yang, Shihui Ma, Lei Zhang, Lihong Shi   +21 more
wiley   +1 more source

Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom

Frontiers in Genetics
IntroductionHolocarboxylase synthetase deficiency (HLCSD) is a rare autosomal recessive genetic disorder caused by mutations in the holocarboxylase synthetase (HLCS) gene, which affects multiple systems.
Haiying Zou, Li Yang, Renlong Zhang, Yao Qin   +3 more
doaj   +1 more source

Rupestonic Acid of Artemisia Rupestris L. Extract Treats Pulmonary Fibrosis in COPD by Targeting TGF‐β1

Advanced Science, EarlyView.
RA of EEAR inhibits TGF‐β1 ubiquitination and changes conformation by target binding TGF‐β1, regulating TGF‐β1/Smad2/3 signaling pathway. Thus it down‐regulated downstream protein expression, inhibited EMT and collagen deposition of ECM, in order to EEAR preventing PF in COPD.
Lingfeng Peng, Lulu Zhang, Yimeng Fan, Sijuan Huang, Qingyu Zhao, Chao Han, Zhihui Hao   +6 more
wiley   +1 more source

A new case of sodium‐dependent multivitamin transporter defect occurring as a life‐threatening condition responsive to early vitamin supplementation and literature review

Molecular Genetics & Genomic Medicine
Background Biallelic pathogenic variants in SLC5A6 resulting in sodium‐dependent multivitamin transporter (SMVT) defect have recently been described as a vitamin‐responsive inborn error of metabolism mimicking biotinidase deficiency.
F.‐X. Van Vyve, N. Mercier, J. Papadopoulos, C. Heijmans, H. Dessy, O. Monestier, J. P. Dewulf, D. Roland   +7 more
doaj   +1 more source

Hyperandrogenemia Induces Trophoblast Ferroptosis and Early Pregnancy Loss in Patients With PCOS via CMA‐Dependent FTH1 Degradation

Advanced Science, EarlyView.
In PCOS patients with hyperandrogenemia, decreased ferritin heavy chain 1 (FTH1) causes Fe2⁺ overload and ferroptosis in trophoblasts. Androgens induce FTH1 protein degradation via AR‐LAMP2A‐mediated chaperone‐mediated autophagy pathway, leading to placental development disruption and early pregnancy loss. Metformin mitigates androgen‐induced placental
Hanjing Zhou, Weijie Yang, Na Liu, Qing Liu, Jiamin Jin, Chenqiong Zhao, Xiaoying Jin, Miao Gui, Haiyan Zhu, Songying Zhang, Yinli Zhang   +10 more
wiley   +1 more source

Targeting Adipose Tissue Function Protects Against Heart Failure with Preserved Ejection Fraction

Advanced Science, EarlyView.
This study explores the role adipose tissue (AT) phenotypes have in determining cardiovascular outcomes in an obesity‐related heart failure with preserved ejection fraction (HFpEF) model. Pharmacological induction of thermogenesis promoted resilience to HFpEF‐induced remodeling of AT and conferred cardioprotection. Surgical and genetic models confirmed
Jordan Jousma, Zhenbo Han, Jooman Park, Gege Yan, Sen Zhang, Youjeong Kwon, Sarath Babu Nukala, Jindpreet Kandola, Sandra Pinho, Chong Wee Liew, Yuwei Jiang, Sang‐Ging Ong   +11 more
wiley   +1 more source

Biotin provisioning by horizontally transferred genes from bacteria confers animal fitness benefits

The ISME Journal, 2020
Fei-Rong Ren, Xiang Sun, Tian-Yu Wang, Ya-Lin Yao, Yan-Zhen Huang, Xue Zhang, Jun-Bo Luan   +6 more
semanticscholar   +1 more source

Effect of increasing dietary concentrate levels on microbial biotin metabolism in the artificial rumen simulation system (RUSITEC)

, 2001
Hj. Abel, Irmgard Immig, C. da Costa Gomez, Christian E. W. Steinberg   +3 more
openalex   +2 more sources

Mutant of Escherichia coli with Derepressed Levels of the Biotin Biosynthetic Enzymes [PDF]

, 1972
C. H. Pai
openalex   +1 more source