Results 121 to 130 of about 75,225 (256)

Genetic characterisation of the Nero d’Aspromonte pig population in Southern Italy

Italian Journal of Animal Science
The aim of this study was to investigate the genomic diversity of the Nero d’Aspromonte (NA) pig population. NA is a subpopulation derived from the Apulo Calabrese (AC) breed that has been reared in total isolation within the Polsi area of Aspromonte ...
Ervin Shishmani, Valentino Palombo, Giuseppina Schiavo, Siria Tavaniello, Mengjun Wu, Marisa Palazzo, Giuseppe Maiorano, Luca Fontanesi, Mariasilvia D’Andrea   +8 more
doaj   +1 more source

Genomic Investigations Unveil the Genetic Underpinnings of Environmental Adaptation in African Goat Populations

Integrative Zoology, EarlyView.
This study integrates genomics and landscape genetics to analyze African goat environmental adaptation. Analyzing 1591 samples, it finds population structure differentiates geographically into four groups, with gene flow between wild Yura goats and North Africans.
Weifeng Peng, Yihua Wang, Yiyuan Zhang, Lei Gao, Lili Wu, Shuping Wang, Yiyang Gao, Wanlu Shi, Kaixin Lu, Rong Deng, Junting Li, Jing Han, Xiaohui Lu, Yujie Liu, Xiaojiao Tang, Yunxia Zhang, Guoyin Li, Li Huang, Mingsheng Yang, Xiaoyan Li   +19 more
wiley   +1 more source

Integrated Methylome–Transcriptome Analysis Reveals Epigenomic Remodeling and Rho GTPase–Linked Immune–Epithelial Crosstalk in Atopic Dermatitis

Allergy, EarlyView.
Integrated methylome–transcriptome–microbiome analysis of AD skin identified thousands of DMRs. Rho GTPase signaling and actin–junctional programs emerged as central hubs integrating immune, epithelial, and microbial interactions in the pathogenesis of atopic dermatitis.
Tiina Skoog, Ying Yang, Peter Olah, Shintaro Katayama, Piia Karisola, Catherine Smith, Stephan Weidinger, Jonathan Barker, Antti Lauerma, Björn Andersson, Bernhard Homey, Nanna Fyhrquist, Juha Kere, Harri Alenius, MAARS Consortium, Francesca Levi‐Schaffer, Dario Greco, Stefanie Prast‐Nielsen, Vassili Soumelis, Sophia Tsoka, Jens M. Schröder, Frank O. Nestle, Philippe Hupé   +22 more
wiley   +1 more source

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Identifying the contributions of progenitor Malus species to cultivated apple (M. domestica) using 20K SNP array data. [PDF]

BMC Genomics
Howard NP, Vanderzande S, Khan G, Luby JJ, Volk GM, Albach DC, Peace C.   +6 more
europepmc   +1 more source

Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup‐specific prognostic stratification using economical/accessible diagnostic methods

Brain Pathology, EarlyView.
This study characterizes the molecular subgroup–specific features of a nationwide Japanese cohort comprising 242 medulloblastomas (MBs). Furthermore, we introduce SEE‐6‐CNA, a simple, cost‐effective, and FFPE‐compatible molecular test that is applicable to routine pathology samples and serves as a surrogate for risk stratification in non‐WNT/non‐SHH ...
Kohichi Go, Asako Katsuma, Ema Yoshioka, Tomoko Shofuda, Kohei Fukuoka, Koichi Ichimura, Yuko Matsushita, Yohei Mineharu, Yasuhide Makino, Takeshi Kawauchi, Atsushi Sasaki, Junko Hirato, Takeshi Inoue, Yoshinori Kodama, Masayuki Mano, Daisuke Kanematsu, Noriyuki Kijima, Naoki Kagawa, Dai Keino, Akitake Mukasa, Tomonari Suzuki, Koji Yoshimoto, Daisuke Kuga, Keishi Horiguchi, Shigeru Yamaguchi, Masayuki Kanamori, Kai Yamasaki, Kenichi Ishibashi, Takuya Akai, Masayoshi Yamaoka, Ryuji Ishizaki, Atsufumi Kawamura, Shigeo Ohba, Joji Ishida, Ryo Ando, Junya Fukai, Tomoru Miwa, Masazumi Fujii, Ai Muroi, Kuniaki Saito, Atsuko Harada, Yasuhiko Hayashi, Masahiro Nonaka, Young‐Soo Park, Yusuke Kobayashi, Tadashi Higuchi, Yosuke Miyairi, Kazuhisa Yoshifuji, Noriyoshi Takebe, Soichi Oya, Kosuke Nakajo, Mitsutoshi Nakada, Yoshiteru Nakano, Mizuki Kambara, Koji Adachi, Kazuhiro Tanaka, Hideo Nakamura, Yukihiko Sonoda, Ryuta Saito, Takafumi Wataya, Kazuhiko Kurozumi, Michael D. Taylor, Yoshitaka Narita, Soichiro Shibui, Hajime Arai, Hiroaki Sakamoto, Isao Date, Motoo Nagane, Ryo Nishikawa, Yoshiki Arakawa, Yonehiro Kanemura   +70 more
wiley   +1 more source

Design and Application of a Genome-Wide SNP Array to Improve Conservation Outcomes in the Critically Endangered Southern Corroboree Frog. [PDF]

Mol Ecol Resour
Davidson MJ, Zenger KR, Keogh JS, Berger L, Skerratt LF, Kosch TA.   +5 more
europepmc   +1 more source