Results 251 to 260 of about 946,819 (342)

Biosynthesis of Sciadonic Acid Derived from Gymnosperms with Anti‐Colitis Activity

Advanced Science, EarlyView.
This study establishes an efficient Yarrowia lipolytica platform for unusual sciadonic acid (SCA) production and assess the anti‐colitis efficacy in mice of SCA, supporting its potential as a novel therapeutic lipid. ABSTRACT Sciadonic acid (SCA), Δ5‐unsaturated fatty acid with anti‐inflammatory and lipid‐regulatory properties, is predominantly derived
Yadi Gao, Wei Liu, Xiuping Liang, Jie Bai, Hong Chang, Wenchao Chen, Mohamed A. Farag, Jianbo Xiao, Huifeng Jiang, Jiasheng Wu, Lili Song   +10 more
wiley   +1 more source

A human neural crest model reveals the developmental impact of neuroblastoma-associated chromosomal aberrations. [PDF]

Nat Commun
Saldana-Guerrero IM, Montano-Gutierrez LF, Boswell K, Hafemeister C, Poon E, Shaw LE, Stavish D, Lea RA, Wernig-Zorc S, Bozsaky E, Fetahu IS, Zoescher P, Pötschger U, Bernkopf M, Wenninger-Weinzierl A, Sturtzel C, Souilhol C, Tarelli S, Shoeb MR, Bozatzi P, Rados M, Guarini M, Buri MC, Weninger W, Putz EM, Huang M, Ladenstein R, Andrews PW, Barbaric I, Cresswell GD, Bryant HE, Distel M, Chesler L, Taschner-Mandl S, Farlik M, Tsakiridis A, Halbritter F.   +36 more
europepmc   +1 more source

Aberrant Chromosomes [PDF]

Botanical Gazette, 1906
openaire   +1 more source

Circulating Tumor Cells in Multiple Myeloma: From Peripheral Clues to Central Insights

American Journal of Hematology, EarlyView.
CTC offer a minimally invasive widow into systemic myeloma biology, overcoming the sampling bias of bone marrow biopsies. Their prognostic value at diagnosis, potential role in MRD monitoring, and ability to capture clonal evolution highlight them as actionable biomarkers for future precision medicine.
Benjamin Podvin, Bruno Paiva, Irene M. Ghobrial, Salomon Manier   +3 more
wiley   +1 more source

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

A chromosome-scale assembly reveals chromosomal aberrations and exchanges generating genetic diversity in Coffea arabica germplasm. [PDF]

Nat Commun
Scalabrin S, Magris G, Liva M, Vitulo N, Vidotto M, Scaglione D, Del Terra L, Ruosi MR, Navarini L, Pellegrino G, Berny Mier Y Teran JC, Toniutti L, Suggi Liverani F, Cerutti M, Di Gaspero G, Morgante M.   +15 more
europepmc   +1 more source

A human neural crest model reveals the developmental impact of neuroblastoma-associated chromosomal aberrations

, 2022
Saldana-Guerrero IM, Montano-Gutierrez LF, Boswell K, Hafemeister C, Poon E, Shaw LE, Shaw LE, Stavish D, Lea RA, Lea RA, Wernig-Zorc S, Bozsaky E, Fetahu IS, Zoescher P, Pötschger U, Bernkopf M, Wenninger-Weinzierl A, Sturtzel C, Souilhol C, Tarelli S, Shoeb MR, Bozatzi P, Rados M, Guarini M, Buri MC, Weninger W, Putz EM, Huang M, Ladenstein R, Andrews PW, Barbaric I, Cresswell GD, Bryant HE, Distel M, Chesler L, Taschner-Mandl S, Farlik M, Tsakiridis A, Halbritter F.   +38 more
europepmc   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George, Bamelak T. Duki, Zoe S. Katz, Aravind Viswanathan, Suzanne P. MacFarland, Evan R. Hathaway, Caitlin Monahan, John Morris, Kelly L. Trout, Shari M. Krantz, Arupa Ganguly, Jennifer M. Kalish   +11 more
wiley   +1 more source