Results 271 to 280 of about 1,702,970 (343)

Identification of a Novel Homozygous <i>SLC34A1</i> Missense Mutation and a Heterozygous <i>SLC34A3</i> Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia. [PDF]

Int J Mol Sci
Mura-Escorche G, García-Suarez LC, Lebredo-Álvarez I, Ramos-Trujillo E, Claverie-Martin F.   +4 more
europepmc   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci, Ursula Thomé, Larissa Aparecida Batista, Ana Laura Volpi Martins Lorenzoni, Carla Andrea Cardoso Tanuri Caldas, Americo Ceiki Sakamoto, Israel Gomy, Lisandra Mesquita Batista, Marcela Lopes de Almeida, Ana Paula Andrade Hamad, Guillermo Andrey Ariza Traslaviña   +10 more
wiley   +1 more source

Enhancement of immune checkpoint inhibitor efficacy by DHX58+ SELL+ T cells in advanced gastric cancer

VIEW, EarlyView.
We created a coculture system using patient‐derived organoids (PDOs) and tumor‐infiltrating lymphocytes (TILs) that mimics important interactions between PDOs and TILs in the presence of various ICIs. Our findings reveal that CD62L+ T cells, activated by CD44+ cancer stem cells (CSCs), facilitate tumor regression in samples sensitive to ICIs, which is ...
Jie Chen, Youdong Liu, Hongda Pan, Tianyi Cai, Mingde Zang, Xiaowen Liu, Ziwen Long, Xin Fan, Jun Lu, Fenglin Liu   +9 more
wiley   +1 more source

A novel missense mutation c.1381T>C: p.(S461P) in <i>POLE</i> causes multiple molecular features of endometrial carcinoma in China: a case report. [PDF]

Front Oncol
Li Y, Wang L, Han L, Zheng Z, Yan J.
europepmc   +1 more source

Multilocus sequence typing of the invasive pest Halyomorpha halys (Hemiptera: Pentatomidae) and associated endosymbiont reveals unexplored diversity

Insect Science, EarlyView.
A multilocus sequence typing approach is proposed to explore Halymorpha halys genetic diversity, taking into consideration both insect nuclear markers and markers from the gut symbiont “Candidatus Pantoa carbekii.” Increased information was revealed regarding the number of distinct holobiont haplotypes in native and invasive populations of the pest ...
Matteo Dho, Matteo Montagna, Chenxi Liu, Giulia Magoga, Giobbe Forni, Alberto Alma, Elena Gonella   +6 more
wiley   +1 more source

A missense mutation in the MACF1 gene in a patient with autism spectrum disorder and epilepsy. [PDF]

J Med Life
Capisizu A, Sandu C, Caragea RM, Capisizu AS.   +3 more
europepmc   +1 more source

Hox Gene Variation Drives Morphological Specialization of Humpback Grouper Cromileptes altivelis

Integrative Zoology, EarlyView.
Cromileptes altivelis exhibits a distinctive “sunken head and humpback” morphology, formed through cranial remodeling. Genetic analyses identified unique amino acid variants in Hoxa7a and Hoxa10b, with functional tests confirming their role in enhancing osteoblast activity and driving cranial remodeling.
Xiaoying Cao, Zhaowei Zhong, Lisheng Wu, Quanyin Liu, Shaoxiong Ding   +4 more
wiley   +1 more source

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [PDF]

, 2018
Fiala, Elise, Willing, Marcia
core   +1 more source

The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial Brain Calcification

Movement Disorders, EarlyView.
Ida Gugler, Per Svenningsson, Inger Nennesmo, Martin Paucar   +3 more
wiley   +1 more source

Museomics Deciphers the Phylogeographic Differentiation and Conservation Status of a Montane Pheasant

Integrative Zoology, EarlyView.
Museum specimens provide a rich source of historical DNA, enabling insights into phylogenetic relationships and demographic history of the endangered Koklass Pheasant. Our findings uncovered a previously unrecognized population in Guizhou province and highlighted elevated extinction risk in populations from Anhui province and Southern China, informing ...
Zhiyong Jiang, Yalin Cheng, Shuai Zhang, Wenqing Zang, Peng He, Dezhi Zhang, Jinjuan Mei, Peng Cui, Yanhua Qu, Hailong Wu   +9 more
wiley   +1 more source