Thomas Liehr

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

Florencia Haase, Oselyne T. W. Ong, Irene Valenzuela, Adam Bournazos et autres

Glycosylphosphatidylinositol-anchored proteins (GPI-APs) are essential for neuronal development, synaptic organization and signaling. Defects in GPI-anchor biosynthesis or remodeling cause rare neurodevelopmental disorders, including post-GPI attachment to proteins 1 (PGAP1) deficiency. PGAP1 encodes an inositol deacylase required for GPI-anchor remodeling and appropriate trafficking …

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Molecular divergence and genomic composition of B chromosomes in the fish Cyphocharax modestus (Characiformes, Curimatidae)

Natália dos Santos, Francisco de Menezes Cavalcante Sassi, Rodrigo Zeni dos Santos, Caio Augusto Gomes Goes et autres

B chromosomes are supernumerary elements that evolve from standard A chromosomes and are primarily composed of repetitive DNAs, yet their origin, diversification, and molecular composition remain poorly understood in most vertebrates. We investigated two allopatric populations of Cyphocharax modestus (Curimatidae) combining classical …

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The role of satellite DNAs in repeatome organization and sex chromosome evolution in the owl monkey Aotus infulatus and congeneric species

Gustavo Akira Toma, Edivaldo Herculano Corrêa de Oliveira, Klebson Demelas Maurício, Liliane Almeida Carneiro et autres

Abstract Background Multiple sex chromosome systems provide exceptional models for investigating the genomic mechanisms underlying sex chromosome evolution. In Neotropical primates, owl monkeys ( Aotus ) are notable for their extensive karyotypic diversity and recurrent emergence of complex sex chromosome systems. Here, …

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Additional file 1 of The role of satellite DNAs in repeatome organization and sex chromosome evolution in the owl monkey Aotus infulatus and congeneric species

Gustavo Akira Toma, Edivaldo Herculano Corrêa de Oliveira, Klebson Demelas Maurício, Liliane Almeida Carneiro et autres

Supplementary Material 1

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Additional file 1 of The role of satellite DNAs in repeatome organization and sex chromosome evolution in the owl monkey Aotus infulatus and congeneric species

Gustavo Akira Toma, Edivaldo Herculano Corrêa de Oliveira, Klebson Demelas Maurício, Liliane Almeida Carneiro et autres

Supplementary Material 1

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Concanavalin A Protocol for Felid Lymphocyte Culture and Chromosome Preparation

Príncia Grejo Setti, Alan Moura de Oliveira, Stéphanie Ferguson Motheo, Otávio Guilherme Gonçalves de Almeida et autres

Chromosome preparation from peripheral blood in felids is often difficult because lymphocytes respond inconsistently to standard mitogens like phytohemagglutinin (PHA), resulting in low and variable mitotic indices. Here, we present a standardized and reproducible protocol for lymphocyte culture and metaphase chromosome preparation …

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Establishment and Characterization of the Murine Liver Tumor Cell Line ΔCN60 with Conditional Caspase-8 and IKKγ/NEMO Inactivation and a Hepatocyte-Biliary Progenitor-like Phenotype

Alejandro Cornejo Müller, Thomas Liehr, Prahlad Balakrishnan, Stefanie Kankel et autres

Caspase-8 and the NF-κB essential modulator (NEMO, also referred to as IKKγ) play critical roles in controlling TNF-α-induced cell death and survival in hepatocytes. The aim of this study was to generate a hepatocyte-derived cell line in which the Casp8 and Nemo …

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Genetic architecture of obesity and advances in precision pharmacotherapy: a comprehensive review

Floren Kavaja, Thomas Liehr, Gazmend Temaj

Obesity, a global health catastrophe, arises from complex interactions between environmental factors and genetic predispositions. This review summarizes the current state of knowledge on the genetic basis of obesity and contrasts rare monogenic forms caused by mutations in a single gene with …

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Sex determines the natural killer cell-mediated immunity against pancreatic cancer

Elise Arlt, Nadine Bley, Alexander Rausch, Sandra Hauser et autres

Pancreatic ductal adenocarcinoma (PDAC) ranks among the most aggressive malignancies and exhibits a higher prevalence and poorer prognosis in male patients. While both the importance of natural killer (NK) cells in anti-tumor immunity and sex differences in NK cell function are well …

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Sex determines the natural killer cell-mediated immunity against pancreatic cancer

Elise Arlt, Nadine Bley, Alexander Rausch, Sandra Hauser et autres

Pancreatic ductal adenocarcinoma (PDAC) ranks among the most aggressive malignancies and exhibits a higher prevalence and poorer prognosis in male patients. While both the importance of natural killer (NK) cells in anti-tumor immunity and sex differences in NK cell function are well …

Establishment and Characterization of the Murine Liver Tumor Cell Line ΔCN60 with Conditional Caspase-8 and IKKγ/NEMO Inactivation and a Hepatocyte-Biliary Progenitor-like Phenotype

Alejandro Cornejo Müller, Thomas Liehr, Prahlad Balakrishnan, Stefanie Kankel et autres

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Investigating the evolution of large meiotic rings of multiple X and Y sex chromosomes in two Leptodactylus frog species (Anura, Leptodactylidae)

Jhon Alex Dziechciarz Vidal, Deborah Charlesworth, Wen‐Juan Ma, Qi Zhou et autres

A few species have evolved multiple sex chromosome systems with more than two Xs or Ys due to sex chromosome-autosome translocations. Among vertebrates, frogs (Anura) have the highest known number of such neo-sex chromosome systems, making them interesting for studying how such …

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