Results 51 to 60 of about 3,939 (151)

Identification of novel genes regulating the development of the palate

Developmental Dynamics, Volume 255, Issue 8, Page 808-823, August 2026.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis

Nature Communications
Recent evidence indicates ferroptosis is implicated in the pathophysiology of various liver diseases; however, the organ-specific regulation mechanism is poorly understood.
Naoya Yamada, Tadayoshi Karasawa, Junya Ito, Daisuke Yamamuro, Kazushi Morimoto, Toshitaka Nakamura, Takanori Komada, Chintogtokh Baatarjav, Yuma Saimoto, Yuka Jinnouchi, Kazuhisa Watanabe, Kouichi Miura, Naoya Yahagi, Kiyotaka Nakagawa, Takayoshi Matsumura, Ken-ichi Yamada, Shun Ishibashi, Naohiro Sata, Marcus Conrad, Masafumi Takahashi   +19 more
doaj   +1 more source

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis

Orphanet Journal of Rare Diseases, 2021
Background Smith–Lemli–Opitz syndrome (SLOS) is an autosomal, recessively inherited congenital malformation syndrome characterized by multiple congenital anomalies such as microcephaly with mental defects, distinctive facial features, genital ...
Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Chang-Seok Ki   +3 more
doaj   +1 more source

Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor

Redox Biology, 2017
The formation of lipid electrophile-protein adducts is associated with many disorders that involve perturbations of cellular redox status. The identities of adducted proteins and the effects of adduction on protein function are mostly unknown and an ...
Keri A. Tallman, Hye-Young H. Kim, Zeljka Korade, Thiago C. Genaro-Mattos, Phillip A. Wages, Wei Liu, Ned A. Porter   +6 more
doaj   +1 more source

Effects of Psychotropic Medication on Somatic Sterol Biosynthesis of Adult Mice

Biomolecules, 2022
Polypharmacy is commonly used to treat psychiatric disorders. These combinations often include drugs with sterol biosynthesis inhibiting side effects, including the antipsychotic aripiprazole (ARI), and antidepressant trazodone (TRZ).
Marta Balog, Allison C Anderson, Marija Heffer, Zeljka Korade, Karoly Mirnics   +4 more
doaj   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

The FEBS Journal, Volume 293, Issue 15, Page 4554-4577, August 2026.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo, Lorenza Driul, Vanessa Tolotto, Eros Di Giorgio, Luigi E. Xodo   +4 more
wiley   +1 more source

Vitamin D-related gene polymorphism predict treatment response to pegylated interferon-based therapy in Thai chronic hepatitis C patients

BMC Gastroenterology, 2017
Background Patients with chronic hepatitis C (HCV) infection have high prevalence of vitamin D deficiency. Genome-wide association study data has showed that several genetic variants within vitamin D cascade affect vitamin D function. This study aimed to
Kessarin Thanapirom, Sirinporn Suksawatamnuay, Wattana Sukeepaisarnjaroen, Pisit Tangkijvanich, Sombat Treeprasertsuk, Panarat Thaimai, Rujipat Wasitthankasem, Yong Poovorawan, Piyawat Komolmit   +8 more
doaj   +1 more source

Alliin Regulates Intracellular Cholesterol Metabolism Through the PCSK9/LDLR Axis in Ox‐LDL‐Induced HepG2 Cells: A Proteomics Study

Food Science &Nutrition, Volume 14, Issue 7, July 2026.
This study demonstrates that alliin reduces intracellular lipid accumulation and alters protein expression in ox‐LDL‐induced HepG2 cells. These effects are linked to cholesterol metabolism and the PPAR and PI3K/Akt signaling pathways. Mechanistically, alliin regulates the PCSK9/LDLR axis, indicating its role in maintaining intracellular cholesterol ...
Yuanyuan Tang, Xiaoshi Liu
wiley   +1 more source

Vitamin D insufficiency in Arabs and South Asians positively associates with polymorphisms in GC and CYP2R1 genes. [PDF]

PLoS ONE, 2014
A number of genetic studies have reported an association between vitamin D related genes such as group-specific component gene (GC), Cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1) and 7-dehydrocholesterol reductase/nicotinamide-adenine ...
Naser Elkum, Fadi Alkayal, Fiona Noronha, Maisa M Ali, Motasem Melhem, Monira Al-Arouj, Abdullah Bennakhi, Kazem Behbehani, Osama Alsmadi, Jehad Abubaker   +9 more
doaj   +1 more source

Cryptorchidism: Novel genetic insights into CCDC149 mutations

Andrology, Volume 14, Issue 5, Page 1155-1163, July 2026.
Abstract Background Cryptorchidism, characterized by the failure of one or both testes to descend into the scrotum, is a common congenital condition that can lead to infertility and increased risk of testicular cancer. CCDC149, a coiled‐coil domain‐containing protein, has been implicated in various developmental processes, but its role in the male ...
Shengrong Du, Shan Xu, Lei Yang, Yan Ye, Yuhan Wu, Ziyun Xiao, Xiuqing Dong, Wenliang Yao, Hua Li   +8 more
wiley   +1 more source