Results 231 to 240 of about 69,276 (291)

Single‐Cell Nucleus Extraction with Cellular Indexing

Advanced Science, EarlyView.
VacTrap is a multilayer, high‐throughput microfluidic system that isolates and spatially indexes single nuclei from hundreds of cells within minutes. Using dissolvable hydrogel trapdoors triggered by chemical and vacuum actuation, VacTrap synchronously transfers nuclei while preserving spatial links to parent cells.
Trinh Lam, Ana Esmeralda Gomez Martinez, Alison Su, Anna Fomitcheva‐Khartchenko, Xin Wang, Md Nazibul Islam, Paul Lum, Amy Elizabeth Herr   +7 more
wiley   +1 more source

Chromosome Aberrations in Workers Exposed to Arsenic

, 1977
G. Beckman, L. Beckman, Ingrid Nordenson
openalex   +1 more source

Cancer Manipulates Adjacent Adipose Tissue to Exploit Fatty Acids via HIF‐1α/CCL2/PPARα Axis: A Metabolic Circuit to Support Tumor Progression

Advanced Science, EarlyView.
Cancer cells drive adjacent adipose tissue to release fatty acids by secreting CCL2, which activates PPARα‐dependent lipolysis. The resulting fatty acid influx amplifies HIF‐1α/CCL2 signaling, establishing a positive feedback loop that fuels tumor growth.
Jeong‐Eun Yun, Jieun Seo, Jiwon Koh, Seock‐Ah Im, Ki Yong Hong, Yeseon Son, Do‐Won Jeong, Junji Fukuda, Jong‐Wan Park, Yang‐Sook Chun   +9 more
wiley   +1 more source

Xq24/<i>IL13RA1</i> aberrations as key drivers of female bias in primary mediastinal large B-cell lymphoma. [PDF]

Hemasphere
Marcelis L, Allsop RN, Vanden Bempt M, Debackere K, Renard F, Tuveri S, Dierickx D, Janiszewski A, Balaton BP, Vets J, Dewaele B, Michaux L, Vandenberghe P, Cools J, Vermeesch JR, Tousseyn T, Pasque V, Wlodarska I.   +17 more
europepmc   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

First reported <i>TRIB1</i> copy number loss in myelodysplastic syndrome (MDS) revealed by single nucleotide polymorphism array (SNP-array) with patient-matched control. [PDF]

Leuk Res Rep
Chi K, Song L.
europepmc   +1 more source

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

CCNV: a user-friendly R package enabling large-scale cumulative copy number variation analyses of DNA methylation data. [PDF]

BMC Bioinformatics
Gocke A, Schumann Y, Navolić J, Godbole S, Schoof M, Dottermusch M, Neumann JE.   +6 more
europepmc   +1 more source