Results 131 to 140 of about 51,568 (249)

Chromosome‐Level Genome Assembly of Strauchbufo raddei and Multi‐Omic Insights Into Drought Adaptation

Integrative Zoology, EarlyView.
ABSTRACT Understanding how amphibians adapt to terrestrial and arid environments is important for elucidating vertebrate terrestrialization. In this study, we present the first chromosome‐level, high‐quality genome assembly of Strauchbufo raddei, constructed using PacBio HiFi long‐read sequencing and Hi‐C scaffolding. The assembled genome is 4.47 Gb in
Fanrui Chen, Rui Su, Chengqi Wang, Shengnan Wang, Jinjing Wang, Yuquan Miao, Wenya Zhang, Wei Zhao   +7 more
wiley   +1 more source

Complex chromosomal rearrangements in female carriers experiencing recurrent pregnancy loss or poor obstetric history and literature review. [PDF]

J Assist Reprod Genet
Sheth F, Shah J, Liehr T, Desai M, Patel H, Sheth J, Sheth H.   +6 more
europepmc   +1 more source

HGTScanner: Detecting horizontal gene transfer at the fine scale using whole organelle genomes

Methods in Ecology and Evolution, EarlyView.
Abstract Horizontal gene transfer (HGT) has profoundly shaped eukaryotic organellar genomes like plant mitochondria. Yet no generalized tools are currently available to efficiently characterize HGT across these genomes due to both high structural complexity and low sequence divergence compared to prokaryotic HGTs.
Liming Cai, Rachel O. Cohen
wiley   +1 more source

Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma. [PDF]

Ann Oncol, 2017
Lee JK, Louzada S, An Y, Kim SY, Kim S, Youk J, Park S, Koo SH, Keam B, Jeon YK, Ku JL, Yang F, Kim TM, Ju YS.   +13 more
europepmc   +1 more source

Reduced‐dose versus standard‐dose total body irradiation before allogeneic haematopoietic stem cell transplantation in adults with acute lymphoblastic leukaemia

British Journal of Haematology, EarlyView.
Summary Comparative data on reduced‐dose (8 Gy) versus standard‐dose (12 Gy) total body irradiation (TBI) before allogeneic haematopoietic stem cell transplantation (allo‐HSCT) for adults with acute lymphoblastic leukaemia (ALL) remain limited. We retrospectively analysed 101 adults undergoing first allo‐HSCT between 1999 and 2024 after 8 Gy or 12 Gy ...
Isabella Gruber, Matthias Edinger, Hendrik Poeck, Elisabeth Meedt, Ernst Holler, Wolfgang Herr, Oliver Koelbl, Daniel Wolff   +7 more
wiley   +1 more source

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. [PDF]

Eur J Hum Genet, 2018
Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC.   +8 more
europepmc   +1 more source

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other embryonal tumors

Brain Pathology, EarlyView.
Resource level‐based recommendations on practical diagnostic strategies for medulloblastomas and other CNS embryonal tumors are provided. Abstract WHO CNS5 mandates integrated histo‐molecular classification of medulloblastomas (MBs) and other CNS embryonal tumors. However, advanced molecular diagnostics remain inaccessible in many low‐ and lower‐middle‐
Chitra Sarkar, Maysa Al‐Hussaini, Vani Santosh, Vaishali Suri, Sung‐Hye Park, Yue‐Shan Piao, Tarik Tihan, Ho‐Keung Ng, Michael Buckland, Rakesh Jalali, Yonehiro Kanemura, Pieter Wesseling, Takashi Komori   +12 more
wiley   +1 more source

Molecular profiling of pediatric medulloblastoma in Kazakhstan: Genomic alterations, subgroup distribution, and survival

Brain Pathology, EarlyView.
A practical formalin‐fixed, paraffin‐embedded (FFPE)‐based molecular workflow integrating pathology, immunohistochemistry, and genomic profiling provides clinically meaningful subgroup classification of pediatric medulloblastoma and expands molecular evidence from an underrepresented Central Asian population. Abstract Medulloblastoma is the most common
Aidos Bolatov, Askhat Zhakupov, Aizhan Abdikadirova, Malika Sapargaliyeva, Bakytkali Ibraimov, Zhanat Zhalimbetova, Gabit Ólenbay, Berik Zhetpisbayev, Xingzhi Xu, Mirgul Bayanova   +9 more
wiley   +1 more source

Gliomas with pleomorphic and pseudopapillary features (GPAP) are circumscribed tumors with targetable mutations, prolonged survival, and frequent tumor predisposition

Brain Pathology, EarlyView.
DNA methylation profiling identifies GPAP as a distinct circumscribed glioma with a characteristic expansive, multicystic radiological appearance, pleomorphic and pseudopapillary histology, a recognizable CNV profile, druggable molecular alterations, and recurrent cancer predisposition syndromes.
Alberto Picca, Valeria Barresi, Aude Trinquet, Luca Bertero, Lucia Nichelli, Guillaume Chotard, Michèle Bernier, Thomas Gareau, Salah Eddine Oussama Kacimi, Jaydutt Bhalshankar, Mathilde Filser, Julien Masliah‐Planchon, Marta Iollo, Henri Malaize, Bertrand Mathon, Luc Bauchet, Kifah Khouri, Besma Barka, Hélène Madry, Sabrina Rossi, Evelina Miele, Giuseppe Kenneth Ricciardi, Catherine Carpentier, Irina Coin, Marc Sanson, Mehdi Touat, Caroline Dehais, Alessia Pellerino, Roberta Rudà, Paola Cassoni, Valérie Rigau, Emmanuelle Uro‐Coste, Karima Mokhtari, Ahmed Idbaih, Patrick R. Benusiglio, Franck Bielle   +35 more
wiley   +1 more source

Covalent drug discovery: Progress against key targets, emerging strategies and lessons learnt

British Journal of Pharmacology, EarlyView.
Abstract Covalent drug discovery is currently experiencing a boom in industrial and academic interest. To date, at least 75 covalent drugs have received regulatory approval, targeting both traditional target classes and more challenging proteins for which other approaches failed. In many cases, unique aspects of covalent targeting are essential for the
Charles P. Brown, Alan Armstrong, David J. Mann   +2 more
wiley   +1 more source