Article
Gastroenterology & Hepatology
Tenghao Zheng, David Ellinghaus, Simonas Juzenas, Francois Cossais, Greta Burmeister, Gabriele Mayr, Isabella Friis Jorgensen, Maris Teder-Laving, Anne Heidi Skogholt, Sisi Chen, Peter R. Strege, Go Ito, Karina Banasik, Thomas Becker, Frank Bokelmann, Soren Brunak, Stephan Buch, Hartmut Clausnitzer, Christian Datz, Frauke Degenhardt, Marek Doniec, Christian Erikstrup, Tonu Esko, Michael Forster, Norbert Frey, Lars G. Fritsche, Maiken Elvestad Gabrielsen, Tobias Grassle, Andrea Gsur, Justus Gross, Jochen Hampe, Alexander Hendricks, Sebastian Hinz, Kristian Hveem, Johannes Jongen, Ralf Junker, Tom Hemming Karlsen, Georg Hemmrich-Stanisak, Wolfgang Kruis, Juozas Kupcinskas, Tilman Laubert, Philip C. Rosenstiel, Christoph Roecken, Matthias Laudes, Fabian H. Leendertz, Wolfgang Lieb, Verena Limperger, Nikolaos Margetis, Kerstin Matz-Rensing, Christopher Georg Nemeth, Eivind Ness-Jensen, Ulrike Nowak-Gottl, Anita Pandit, Ole Birger Pedersen, Hans Gunter Peleikis, Kenneth Peuker, Cristina Leal Rodriguez, Malte Christoph Ruehlemann, Bodo Schniewind, Martin Schulzky, Jurgita Skieceviciene, Jurgen Tepel, Laurent Thomas, Florian Uellendahl-Werth, Henrik Ullum, Ilka Vogel, Henry Volzke, Lorenzo von Fersen, Witigo von Schonfels, Brett Vanderwerff, Julia Wilking, Michael Wittig, Sebastian Zeissig, Myrko Zobel, Matthew Zawistowski, Vladimir Vacic, Olga Sazonova, Elizabeth S. Noblin, Gianrico Farrugia, Arthur Beyder, Thilo Wedel, Volker Kahlke, Clemens Schafmayer, Mauro D'Amato, Andre Franke
Summary: Haemorrhoidal disease (HEM) has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction. Genetic correlation analyses show associations with diseases from GI, neuroaffective and cardiovascular domains, and HEM polygenic risk scores are correlated with younger age of onset and recurrent surgery, indicating potential for identifying at-risk individuals. Functional annotation and network transcriptomic analyses highlight genes and pathways related to blood vessels, GI tissues, and development of musculoskeletal and epidermal systems in HEM.
Article
Plant Sciences
Qian You, Huimin Li, Jun Wu, Tao Li, Yikui Wang, Guangwen Sun, Zhiliang Li, Baojuan Sun
Summary: This study identified three major genes (D, P, and Y) that control the anthocyanin coloration in eggplant fruits through genetic mapping and gene expression analysis. The candidate genes for D and P, SmMYB1 on chromosome 10 and SmANS on chromosome 8, were identified. Additionally, three gene variations related to phenotypic differences in two white-fruit accessions were discovered. These findings have significant implications for breeding eggplant fruit peel color.
HORTICULTURE RESEARCH
(2023)
Review
Genetics & Heredity
Virginia Kimonis, Rehab al Dubaisi, Andrew E. Maclean, Kathy Hall, Lan Weiss, Alexander E. Stover, Philip H. Schwartz, Bethany Berg, Cheng Cheng, Sumit Parikh, Blair R. Conner, Sitao Wu, Anton N. Hasso, Daryl A. Scott, Mary Kay Koenig, Rachid Karam, Sha Tang, Moyra Smith, Elizabeth Chao, Janneke Balk, Eli Hatchwell, Peggy S. Eis
Summary: This study reports clinical and genetic findings in five new patients with NUBPL disease, increasing the number and phenotypic variability of diagnosed patients globally. The clinical features of these patients include early neurological symptoms, global developmental delay, and cerebellar dysfunction, with mitochondrial function studies showing significant abnormalities.
JOURNAL OF MEDICAL GENETICS
(2021)
Review
Medicine, General & Internal
Giovanni Battista Bonfioli, Luca Rodella, Roberta Rosati, Alberto Carrozza, Marco Metra, Enrico Vizzardi
Summary: The aorta and aortic wall are complex biological systems that are closely associated with arterial stiffness, which has been linked to aortopathies and cardiovascular risk. Pulse-wave velocity (PWV) is considered the gold standard for assessing arterial stiffness and can be used to identify high-risk patients and evaluate therapeutic strategies.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Evolutionary Biology
Yuanting Jin, Diana Aguilar-Gomez, Debora Y. C. Brandt, Tyler A. Square, Jiasheng Li, Zhengxia Liu, Tao Wang, Peter H. Sudmant, Craig T. Miller, Rasmus Nielsen
Summary: This study analyzed the genome of the variegated toad-headed agama and found that substrate color plays an important role in the melanism adaptation of the lizard.
GENOME BIOLOGY AND EVOLUTION
(2022)
Article
Biology
Khai C. Ang, Victor A. Canfield, Tiffany C. Foster, Thaddeus D. Harbaugh, Kathryn A. Early, Rachel L. Harter, Katherine P. Reid, Shou Ling Leong, Yuka Kawasawa, Dajiang Liu, John W. Hawley, Keith C. Cheng
Summary: This study focused on a Native American population with high Native American genetic ancestry, aiming to investigate the impact of this ancestry on skin color variation. The results showed that Native American genetic ancestry had the greatest effect on reducing skin pigmentation, while genetic mutations from European and African ancestries had smaller effects. However, the specific genetic variants responsible for light skin in Native American/East Asian populations remain to be identified.
Review
Genetics & Heredity
Elizabeth A. Werren, Obed Garcia, Abigail W. Bigham
Summary: The phenotypic diversity across human populations is the result of genetic drift, gene flow, and natural selection, with scientists using large-scale genomic data to map natural selection signatures. Research has shown an under-representation of diverse human populations in current public genomic databases, limiting the study of human biological variation.
Article
Genetics & Heredity
Fabrizio Bella, Maria Rosaria Anna Muscatello, Angela D'Ascola, Salvatore Campo
Summary: This study aims to evaluate the gene expression levels of non-coding RNAs highly expressed in the central nervous system in drug-naive/drug-free bipolar and panic patients. The results show that the expression levels of miR-221, MALAT1, and GAS5 are significantly up-regulated in bipolar patients after therapy, while all non-coding RNAs investigated are down-regulated in panic disorder patients after therapy.
Article
Dermatology
Hak Tae Kim, Myoung Eun Choi, Hyoungmin Na, Woo Jin Lee, Chong Hyun Won, Mi Woo Lee, Jee Ho Choi, Sung Eun Chang
Summary: Partial unilateral lentiginosis (PUL) is a rare acquired condition characterized by circumscribed hyperpigmentation involving one side of the body. This study evaluated clinical and histopathological characteristics and treatment outcomes of PUL in the head and neck area of Koreans. The findings may improve the diagnosis and management of PUL in the future.
INTERNATIONAL JOURNAL OF DERMATOLOGY
(2021)
Article
Multidisciplinary Sciences
Chiara Barbieri, Damian E. Blasi, Epifania Arango-Isaza, Alexandros G. Sotiropoulos, Harald Hammarstrom, Soren Wichmann, Simon J. Greenhill, Russell D. Gray, Robert Forkel, Balthasar Bickel, Kentaro K. Shimizu
Summary: Human history is written in both our genes and our languages, and the congruence between biological and linguistic histories has been a subject of debate. By using a genomic database (GeLaTo), researchers found that populations speaking languages from the same family are genetically similar. However, there are also genetic mismatches between populations closely related linguistically. These mismatches are scattered globally and mainly result from populations adopting the language of genetically different neighboring populations due to demographic shifts.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Dermatology
Ophelia E. Dadzie, Rick A. Sturm, Damilola Fajuyigbe, Antoine Petit, Nina G. Jablonski
Summary: The research team developed a five-point scale called the Eumelanin Human Skin Colour Scale to describe the range of human constitutive skin colour. This scale uses eumelanin as the central descriptive word and distinguishes different skin colour categories based on melanin index values.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Review
Clinical Neurology
Alessio Di Fonzo, Alberto Albanese, Hyder A. Jinnah
Summary: The genetic causes of dystonia share common underlying mechanisms, including dysregulation in neurotransmitter signaling, gene transcription, and quality control machinery. Recent findings also include forms associated with endolysosomal dysfunction. Discovering these shared biological pathways is an important breakthrough in understanding the underlying mechanisms and clinical phenomenology of dystonia.
CURRENT OPINION IN NEUROLOGY
(2022)
Article
Gastroenterology & Hepatology
Yao Yang, Jinjung Choi, Ying Chen, Pietro Invernizzi, Guoxiang Yang, Weici Zhang, Ti-hong Shao, Frank Jordan, Natalia S. Nemeria, Ross L. Coppel, William M. Ridgway, Mark Kurth, Aftab A. Ansari, Patrick S. C. Leung, M. Eric Gershwin
Summary: The study revealed unique epitopes in human PDC-E2 distinct from E. coli PDC-E2, suggesting a possible link between specific antibodies to ePDC-E2 and the development of PBC. Additionally, it was found that lipoic acid affects the conformation of ePDC-E2 and AMA recognition, potentially leading to the formation of anti-mitochondrial antibodies.
Article
Medicine, Research & Experimental
Lynn M. M. Schriml, Richard Lichenstein, Katharine Bisordi, Cynthia Bearer, J. Allen Baron, Carol Greene
Summary: A complex disease model that considers the combination of multiple phenotypes and diseases and the interaction of genetic, environmental, and social factors has been developed and tested. The model provides a more accurate classification of complex diseases and improves understanding of disease drivers.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Health Care Sciences & Services
Sarah Mosca, Aldo Morrone
Summary: Skin pigmentation is a highly variable human characteristic that has historically been used to categorize different groups of people. The evolution of skin pigmentation over millions of years has been influenced by factors such as UV radiation and migration patterns. Unfortunately, the unequal perception and classification of skin color has led to social and health inequalities. This review explores the characterisation of pigmentation and its impact on dermatology and social health disparities.
Article
Biochemistry & Molecular Biology
Randy J. Chandler, Ian M. Williams, Alana L. Gibson, Cristin D. Davidson, Arturo A. Incao, Brandon T. Hubbard, Forbes D. Porter, William J. Pavan, Charles P. Venditti
HUMAN MOLECULAR GENETICS
(2017)
Article
Multidisciplinary Sciences
Sales Ibiza, Bethania Garcia-Cassani, Helder Ribeiro, Tania Carvalho, Luis Almeida, Rute Marques, Ana M. Misic, Casey Bartow-McKenney, Denise M. Larson, William J. Pavan, Gerard Eberl, Elizabeth A. Grice, Henrique Veiga-Fernandes
Article
Biochemistry & Molecular Biology
Kevin R. Francis, Amy N. Ton, Yao Xin, Peter E. O'Halloran, Christopher A. Wassif, Nasir Malik, Ian M. Williams, Celine V. Cluzeau, Niraj S. Trivedi, William J. Pavan, Wonhwa Cho, Heiner Westphal, Forbes D. Porter
Article
Multidisciplinary Sciences
Elena-Raluca Nicoli, Nada Al Eisa, Celine V. M. Cluzeau, Christopher A. Wassif, James Gray, Kathryn R. Burkert, David A. Smith, Lauren Morris, Stephanie M. Cologna, Cody J. Peer, Tristan M. Sissung, Constantin-Daniel Uscatu, William D. Figg, William J. Pavan, Charles H. Vite, Forbes D. Porter, Frances M. Platt
Article
Genetics & Heredity
Dawn E. Watkins-Chow, Gaurav K. Varshney, Lisa J. Garrett, Zelin Chen, Erin A. Jimenez, Cecilia Rivas, Kevin S. Bishop, Raman Sood, Ursula L. Harper, William J. Pavan, Shawn M. Burgess
G3-GENES GENOMES GENETICS
(2017)
Article
Medicine, General & Internal
Daniel S. Ory, Elizabeth A. Ottinger, Nicole Yanjanin Farhat, Kelly A. King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin D. Davidson, Simona Bianconi, Lee Ann Keener, Ravichandran Rao, Ariane Soldatos, Rohini Sidhu, Kimberly A. Walters, Xin Xu, Audrey Thurm, Beth Solomon, William J. Pavan, Bernardus N. Machielse, Mark Kao, Steven A. Silber, John C. Mckew, Carmen C. Brewer, Charles H. Vite, Steven U. Walkley, Christopher P. Austin, Forbes D. Porter
Article
Biochemistry & Molecular Biology
Himangi G. Marathe, Dawn E. Watkins-Chow, Matthias Weider, Alana Hoffmann, Gaurav Mehta, Archit Trivedi, Shweta Aras, Tupa Basuroy, Aanchal Mehrotra, Dorothy C. Bennett, Michael Wegner, William J. Pavan, Ivana L. de la Serna
NUCLEIC ACIDS RESEARCH
(2017)
Article
Oncology
Stacie K. Loftus, Laura L. Baxter, Julia C. Cronin, Temesgen D. Fufa, William J. Pavan
PIGMENT CELL & MELANOMA RESEARCH
(2017)
Article
Multidisciplinary Sciences
Nicholas G. Crawford, Derek E. Kelly, Matthew E. B. Hansen, Marcia H. Beltrame, Shaohua Fan, Shanna L. Bowman, Ethan Jewett, Alessia Ranciaro, Simon Thompson, Yancy Lo, Susanne P. Pfeifer, Jeffrey D. Jensen, Michael C. Campbell, William Beggs, Farhad Hormozdiari, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Thomas Nyambo, Dawit Wolde Meskel, Gurja Belay, Jake Haut, Harriet Rothschild, Leonard Zon, Yi Zhou, Michael A. Kovacs, Mai Xu, Tongwu Zhang, Kevin Bishop, Jason Sinclair, Cecilia Rivas, Eugene Elliot, Jiyeon Choi, Shengchao A. Li, Belynda Hicks, Shawn Burgess, Christian Abnet, Dawn E. Watkins-Chow, Elena Oceana, Yun S. Song, Eleazar Eskin, Kevin M. Brown, Michael S. Marks, Stacie K. Loftus, William J. Pavan, Meredith Yeager, Stephen Chanock, Sarah A. Tishkoff
Article
Genetics & Heredity
Rolando Ruiz, Sohail Jahid, Melissa Harris, Diego M. Marzese, Francisco Espitia, Priya Vasudeva, Chi-Fen Chen, Sebastien de Feraudy, Jie Wu, Daniel L. Gillen, Tatiana B. Krasieva, Bruce J. Tromberg, William J. Pavan, Dave S. Hoon, Anand K. Ganesan
Article
Genetics & Heredity
Hannah E. Seberg, Eric Van Otterloo, Stacie K. Loftus, Huan Liu, Greg Bonde, Ramakrishna Sompallae, Derek E. Gildea, Juan F. Santana, J. Robert Manak, William J. Pavan, Trevor Williams, Robert A. Cornell
Article
Multidisciplinary Sciences
Julia C. Cronin, Stacie K. Loftus, Laura L. Baxter, Steve Swatkoski, Marjan Gucek, William J. Pavan
Review
Oncology
Laura L. Baxter, Dawn E. Watkins-Chow, William J. Pavan, Stacie K. Loftus
PIGMENT CELL & MELANOMA RESEARCH
(2019)
Article
Genetics & Heredity
Stacie K. Loftus, Linnea Lundh, Dawn E. Watkins-Chow, Laura L. Baxter, Erola Pairo-Castineira, Ian J. Jackson, William S. Oetting, William J. Pavan, David R. Adams
Summary: Oculocutaneous albinism (OCA) is a heritable disorder of pigment production, and a complex structural variant (CxSV) in the OCA2 gene involving a 143 kb inverted segment has been identified as a potential genetic cause in some affected individuals. This discovery highlights the importance of comprehensive genetic testing for a complete molecular diagnosis in individuals with OCA who do not have identifiable mutations in known OCA genes.