Results 161 to 170 of about 232,331 (307)

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Multiomics identifies the link between intratumor steatosis and the exhausted tumor immune microenvironment in hepatocellular carcinoma

Hepatology, EarlyView., 2022
Steatotic HCC can be diagnosed by MRI and forms a pro‐tumor immune microenvironment with high expression of PD‐L1, M2 polarization of macrophages and activation of CAFs, which may be a good target for combined immunotherapy. Abstract Background and Aims Immunotherapy has become the standard‐of‐care treatment for hepatocellular carcinoma (HCC), but its ...
Hiroki Murai, Takahiro Kodama, Kazuki Maesaka, Shoichiro Tange, Daisuke Motooka, Yutaka Suzuki, Yasuyuki Shigematsu, Kentaro Inamura, Yoshihiro Mise, Akio Saiura, Yoshihiro Ono, Yu Takahashi, Yota Kawasaki, Satoshi Iino, Shogo Kobayashi, Masashi Idogawa, Takashi Tokino, Tomomi Hashidate‐Yoshida, Hideo Shindou, Masanori Miyazaki, Yasuharu Imai, Satoshi Tanaka, Eiji Mita, Kazuyoshi Ohkawa, Hayato Hikita, Ryotaro Sakamori, Tomohide Tatsumi, Hidetoshi Eguchi, Eiichi Morii, Tetsuo Takehara   +29 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

Identification of novel neutralizing determinants for protection against HCV

Hepatology, EarlyView., 2022
Identification of novel neutralizing determinants for protection against hepatitis C virus. Abstract Background and Aims HCV evasion of neutralizing antibodies (nAb) results in viral persistence and poses challenges to the development of an urgently needed vaccine.
Garazi P. Alzua, Anne F. Pihl, Anna Offersgaard, Rodrigo Velázquez‐Moctezuma, Carlos R. Duarte Hernandez, Elias H. Augestad, Ulrik Fahnøe, Christian K. Mathiesen, Henrik Krarup, Mansun Law, Jannick Prentoe, Jens Bukh, Judith M. Gottwein   +12 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A shared mucosal gut microbiota signature in primary sclerosing cholangitis before and after liver transplantation

Hepatology, EarlyView., 2022
In this study of the gut mucosal microbiota in primary sclerosing cholangitis (PSC), we found consistent microbiota features associated with PSC and recurrent PSC, PSC with inflammatory bowel disease and a persistent gut dysbiosis after liver transplantation Abstract Background and Aims Several characteristic features of the fecal microbiota have been ...
Mikal Jacob Hole, Kristin Kaasen Jørgensen, Kristian Holm, Peder R. Braadland, Malin Holm Meyer‐Myklestad, Asle Wilhelm Medhus, Dag Henrik Reikvam, Alexandra Götz, Krzysztof Grzyb, Kirsten Muri Boberg, Tom Hemming Karlsen, Martin Kummen, Johannes R. Hov   +12 more
wiley   +1 more source

The potency of native postbiotics and paraprobiotics in modulating inflammation by affecting the gut–kidney axis

Animal Models and Experimental Medicine, EarlyView.
Native postbiotics and paraprobiotics derived from Lactobacillus and Bifidobacterium strains were administered to dextran sulfate sodium–treated C57BL/6 mice to evaluate their impact on kidney inflammation via the gut–kidney axis. Histological analysis and quantitative polymerase chain reaction of autophagy‐related genes (atg5, atg7, atg12, atg13 ...
Fatemeh Haririzadeh Jouriani, Mahnaz Torfeh, Fatemeh Ashrafian, Niloofar Rezaie, Mohsen Mohammadi, Shadi Aghamohammad, Mahdi Rohani   +6 more
wiley   +1 more source

Direct microhaplotype genotyping for GT-seq (Genotyping-in-Thousands by Sequencing) using a diploid abundance model. [PDF]

PLoS Comput Biol
Campbell NR, Campbell AR, Blair SK, Finger AJ.   +3 more
europepmc   +1 more source

The origin and evolution of human ampliconic gene families and ampliconic structure

The origin and evolution of human ampliconic gene families and ampliconic structure
Out of the nine male-specific gene families in the human Y chromosome amplicons, we investigate the origin and evolution of seven families for which gametologous and orthologous sequences are available. Proto-X/Y gene pairs in the original mammalian sex chromosomes played major roles in origins and gave rise to five gene families: XKRY, VCY, HSFY, RBMY,
openaire   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source