Results 141 to 150 of about 167,087,863 (243)

Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature. [PDF]

Orphanet J Rare Dis, 2020
Li L, Su C, Fan L, Gao F, Liang X, Gong C.   +5 more
europepmc   +1 more source

Immunophenotypic, Genetic, and Clinical Features Associated With RUNX1 Mutation in Acute Leukemias and Chronic Myeloid Neoplasms

International Journal of Laboratory Hematology, Volume 48, Issue 5, Page 1094-1102, October 2026.
ABSTRACT Introduction RUNX1 is a commonly mutated transcriptional regulator of hematopoiesis in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). Mutated RUNX1 (mRUNX1) may associate with cross‐lineage immunophenotypic aberrancy, presenting potential complications for blast lineage assignment at diagnosis. Methods Clinical and laboratory
Yi Han Xia, Eric McGinnis
wiley   +1 more source

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. [PDF]

Mol Genet Genomic Med, 2020
van den Bergen JA, Robevska G, Eggers S, Riedl S, Grover SR, Bergman PB, Kimber C, Jiwane A, Khan S, Krausz C, Raza J, Atta I, Davis SR, Ono M, Harley V, Faradz SMH, Sinclair AH, Ayers KL.   +17 more
europepmc   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1791-1806, September 2026.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. [PDF]

Orphanet J Rare Dis
Błaszczyk E, Więcek M, Jazela-Stanek A, Kudela G, Koszutski T, Kowalczyk K, Sikora J, Wiernik A, Żarczyńska M, Kempińska W, Bielska-Brodziak A, Gawlik-Starzyk A.   +11 more
europepmc   +1 more source

Expanded Hepatic Progenitor Cells Featured with Aggregation of α‐Synuclein Contribute to Pathologic Bile Duct Regeneration in Biliary Atresia

Advanced Science, Volume 13, Issue 50, 7 September 2026.
Expanded NCAM1+EpCAM+ hepatic progenitor cells in biliary atresia are characterized by aggregation of α‐synuclein. This pathological protein potentiates cellular susceptibility to GSH‐dependent redox dyshomeostasis, induces unstable biliary cell fate specification, and subsequently drives aberrant biliary regeneration.
Hua Xie, Mengyan Zhu, Zhongxian Zhu, Jiaqi Tang, Ruyi Zhang, Zequan Ding, Junzhi Li, Zhongluan Wu, Paul Kwong Hang Tam, Qianghu Wang, Vincent Chi Hang Lui, Yankai Xia, Weibing Tang   +12 more
wiley   +1 more source

Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants. [PDF]

Biol Sex Differ
Liu Q, Zang S, Li Y, Yin X, Li P.
europepmc   +1 more source

Wearable‐Derived Diurnal Alignment Between Physical Activity and Device Temperature Predicts Future Disease and Mortality Risk

Advanced Science, Volume 13, Issue 52, 18 September 2026.
Wearable‐derived diurnal alignment between physical activity and device temperature, decomposed into 24 h coupling strength (M24), phase deviation (D24), and 12 h harmonic magnitude (M12), is examined in approximately 90,000 UK Biobank participants.
Han Chen, Jiahe Wei, Jonathan Cedernaes, Christian Benedict, Athanasios Tsanas, Zhi Cao, Xiao Tan   +6 more
wiley   +1 more source

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis. [PDF]

BMC Med Genomics
Li C, Yang B, Li X, Zhen S, Liu X, Li P, Chen W, Wang X, Xue M.   +8 more
europepmc   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, Volume 13, Issue 52, 18 September 2026.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source