Results 251 to 260 of about 990,174 (349)

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

, 2014
Ruth M. Baxter, Valerie A. Arboleda, Hane Lee, Hayk Barseghyan, Margaret P Adam, Patricia Y. Fechner, Renee Bargman, Catherine E. Keegan, Sharon Travers, Susan Schelley, Louanne Hudgins, Revi P. Mathew, Heather J. Stalker, Roberto Zori, Ora Gordon, Leigh Ramos‐Platt, Anna Pawlikowska‐Haddal, Ascia Eskin, Stanley F. Nelson, Emmanuèle C. Délot, Éric Vilain   +20 more
openalex   +1 more source

The Ethics of Fertility Preservation for Pediatric Patients With Differences (Disorders) of Sex Development [PDF]

, 2017
Lisa Campo‐Engelstein, Diane Chen, Arlene B. Baratz, Emilie K. Johnson, Courtney Finlayson   +4 more
openalex   +1 more source

Multi‐Omics and ‐Organ Insights into Energy Metabolic Adaptations in Early Sepsis Onset

Advanced Science, EarlyView.
This study shows that patients at risk of sepsis have a distinct metabolite and lipid signature, including serine and aminoadipic acid, in their serum before clinical diagnosis. A mouse model of sepsis with a compatible serum signature reveals underlying metabolic changes, including mitochondrial adaptation, altered serine‐dependent purine metabolism ...
Lin‐Lin Xu, Zhengyuan Zhou, Sascha Schäuble, Wolfgang Vivas, Karen Dlubatz, Michael Bauer, Sebastian Weis, Mervyn Singer, Roman Lukaszewski, Gianni Panagiotou   +9 more
wiley   +1 more source

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals. [PDF]

Hum Genome Var, 2022
Shiga N, Yamaguchi-Kabata Y, Igeta S, Yasuda J, Tadaka S, Minato T, Watanabe Z, Kanno J, Tamiya G, Fuse N, Kinoshita K, Kure S, Kondo A, Tachibana M, Yamamoto M, Yaegashi N, Sugawara J.   +16 more
europepmc   +1 more source

KRAS/ABHD17C/ALOX15B Axis Promotes Pancreatic Cancer Progression via Ferroptosis Evasion

Advanced Science, EarlyView.
Phosphorylation of ABHD17C induced by KRASmut/ERK signaling facilitates ALOX15B depalmitoylation and degradation via the CUL4/DDB1/DCAF10 complex, thereby enabling KRASmut‐PDAC cell to evade ferroptosis. Methyl protodioscin inhibits KRASmut‐PDAC progression by disrupting the ABHD17C/ALOX15B interaction and inducing ferroptosis, which represents a ...
Man Li, Xuexin Yu, Yuanji Liu, Shuqin Ouyang, Long Wu, Xiaohong Chen, Huiqi Yu, Haoming Chen, Senmao Lian, Ziwen Li, Liyun Gong, Libing Song, Jun Li   +12 more
wiley   +1 more source

Deciphering the Acetabular Labrum's Cellular Atlas: MDK Inhibition as a Novel Therapeutic Method for Developmental Dysplasia of the Hip

Advanced Science, EarlyView.
This study explores developmental dysplasia of the hip (DDH) by analyzing acetabular labrum abnormalities using single‐cell and spatial transcriptomics. Aberrant fibrocartilage stem cell proliferation is linked to DDH progression. Targeting the MK signaling pathway with a specific inhibitor effectively alleviates early DDH abnormalities, offering ...
Runze Yang, Huiling Liu, Minghao Ge, Dingyuan Zhang, Tianhao Xu, Lei Zhang, Yanlin Zhu, Shun Li, Jian Li, Xin Ma, Weili Fu   +10 more
wiley   +1 more source

Neurofibromatosis masquerading as disorder of sex development

Indian Journal of Endocrinology and Metabolism, 2019
Arun Kumar Choudhury, Anoj Kumar Baliarsinha, Swayamsidha Mangaraj, Annada Prasad Patnaik, Ipsita Mishra   +4 more
openaire   +4 more sources

Spectrum of Disorders of Sex Development: A Single-Center Experience in the Southern Area of Iraq. [PDF]

Cureus
Al-Sahar NF, Al-Ali AJ, Mansour AA.
europepmc   +1 more source

A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review

, 2015
Xinyi Xia, Cui Zhang, TIAN-FU LI, Qiuyue Wu, Na Li, Weiwei Li, Ying‐Xia Cui, Xiaojun Li, YI-CHAO SHI   +8 more
openalex   +2 more sources