Results 111 to 120 of about 4,000 (206)

ADAM9 Genetic Variants and Their Role in Modulating Enzyme Activity in Diabetes and Metabolic Traits

Journal of Diabetes Research, Volume 2025, Issue 1, 2025.
A disintegrin and metalloproteinase Domain 9 (ADAM9) is a zinc‐dependent proteinase involved in various biological processes. However, its role in the pathophysiology of metabolic syndrome remains unclear, and studies exploring the association between ADAM9 polymorphisms and metabolic traits are limited.
Hana Drobiova, Fahd Al-Mulla, Rabeah Al-Temaimi, Syed Anees Ahmed   +3 more
wiley   +1 more source

Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis

Animal Genetics, Volume 55, Issue 6, Page 801-809, December 2024.
Abstract Neuronal ceroid lipofuscinosis (NCL) represents a heterogenous group of lysosomal storage diseases resulting in progressive neurodegeneration. We investigated two Small Swiss Hound littermates that showed progressive ataxia and loss of cognitive functions and vision starting around the age of 12 months.
Stefan J. Rietmann, Shenja Loderstedt, Kaspar Matiasek, Ingmar Kiefer, Vidhya Jagannathan, Tosso Leeb   +5 more
wiley   +1 more source

Novel Graphical Analyses of Runs of Homozygosity among Species and Livestock Breeds [PDF]

, 2016
peer-reviewedRuns of homozygosity (ROH), uninterrupted stretches of homozygous genotypes resulting from parents transmitting identical haplotypes to their offspring, have emerged as informative genome-wide estimates of autozygosity (inbreeding).
Iacolina, Laura, Kaminski, Stanislaw, Kjaersgaard, Anders, Munoz, Joaquin, Norgaard, Louise S., Pertoldi, Cino, Purfield, Deirdre C, Ruiz-Gonzalez, Aritz, Stronen, Astrid V., Tokarska, Małgorzata   +9 more
core   +2 more sources

Recently Delisted Songbird Harbors Extensive Genomic Evidence of Inbreeding, Potentially Complicating Future Recovery

Evolutionary Applications, Volume 17, Issue 12, December 2024.
ABSTRACT The Kirtland's warbler (Setophaga kirtlandii) is a rare migratory passerine species and habitat specialist of the North American Jack Pine Forests. Their near extinction in the 1970s classified them as endangered and protected under the Endangered Species Act of 1973.
Anna María Calderón, Andrew W. Wood, Zachary A. Szpiech, David P. L. Toews   +3 more
wiley   +1 more source

Age-based partitioning of individual genomic inbreeding levels in Belgian Blue cattle

Genetics Selection Evolution, 2017
Background Inbreeding coefficients can be estimated either from pedigree data or from genomic data, and with genomic data, they are either global or local (when the linkage map is used).
Marina Solé, Ann-Stephan Gori, Pierre Faux, Amandine Bertrand, Frédéric Farnir, Mathieu Gautier, Tom Druet   +6 more
doaj   +1 more source

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]

, 2004
Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark, Alex F Markham, B Hagberg, BG Condie, C Geoffrey Woods, CL Fawer, Clare N Lynex, CM Wiles, David T Bonthon, DF Bu, DF Bu, DJ Stone, DL Martin, DL Martin, DP McHale, DP McHale, E Maestrini, Eamonn R Maher, F Sandbrink, G Gaffney, GE Homanics, H Asada, H Mitoma, HM Meinck, I Hughes, Ian M Carr, J Kim, J Volpe, Jack P Leek, JO Forfar, JS Lappalainen, K Burk, K Dinkel, KCK Kuban, KH Gustavson, LM Dubowitz, LM Levy, M Baraitser, M Solimena, M Solimena, MC Dalakas, MG Erlander, MH Butler, N Laprade, N Paneth, POD Pharoah, PS Eicher, PT Bosma, Rajgopal Achuthan, RW Bond, S Bundey, S Chattopadhyay, S Kono, S Kure, S Mitchell, SD Chessler, Simon Mitchell, V Cormier-Daire   +57 more
core   +2 more sources

Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale

Evolutionary Applications, Volume 17, Issue 12, December 2024.
ABSTRACT The reduced genetic diversity and frequent inbreeding associated with small population size may underpin the accumulation and expression of deleterious mutations (mutation load) in some declining populations. However, demographic perturbations and inbreeding coupled with purifying selection can also purge declining populations of deleterious ...
Richard W. Orton, Philip K. Hamilton, Timothy R. Frasier   +2 more
wiley   +1 more source

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

Orphanet Journal of Rare Diseases, 2020
Background Glycogen storage disease (GSD) is a rare inborn error of the synthesis or degradation of glycogen metabolism. GSD1, the most common type of GSD, is categorized into GSD1a and GSD1b which caused by the deficiency of glucose-6-phosphatase (G6PC)
Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi   +10 more
doaj   +1 more source

DNA strand break repair and neurodegeneration. [PDF]

, 2013
A number of DNA repair disorders are known to cause neurological problems. These disorders can be broadly characterised into early developmental, mid-to-late developmental or progressive.
Abraham, Ahel, Alano, Alderton, Alter, Barbi, Barlow, Barnes, Bayatti, Bendixen, Bohr, Bootsma, Breslin, Brown, Buck, Buis, Caldecott, Caldecott, Caldecott, Cantoni, Chappell, Clements, Cortes Ledesma, Date, de Boer, de Boer, de Klein, de Vries, Delaval, Derheimer, Donahue, Durocher, El-Khamisy, El-Khamisy, El-Khamisy, Eliasson, Fattah, Frank, Frank, Frappart, Gao, Gao, Gatz, Goodship, Griffith, Gruber, Gueven, Henning, Hoeijmakers, Hoeijmakers, Jackson, Jeggo, Jilani, Kathe, Katyal, Keith W. Caldecott, Koch, Kuzminov, Lakin, Lakshmipathy, LaMonica, Le Ber, Lee, Lee, Lee, Lehmann, Letinic, Li, Licht, Lieber, Lindahl, Ljungman, Ljungman, Loizou, Luo, Mallery, Mao, Matsuura, Mayne, McKinnon, McKinnon, Mellon, Mischo, Mitchell, Moreira, Moreira, Moreno-Herrero, Morris, Moynahan, Mu, Murai, Murai, Murga, Nakane, Nance, Nilsen, Nussenzweig, Ogi, Okano, Orii, Osterod, Ouyang, O’Driscoll, O’Driscoll, O’Driscoll, Paula-Barbosa, Paull, Puebla-Osorio, Resnick, Revet, Reynolds, Reynolds, Rouse, Sanai, Schumacher, Shechter, Shen, Shiloh, Shull, Sidman, Skourti-Stathaki, Sleeth, Sonoda, Stefanini, Stewart, Stiff, Stuart L. Rulten, Sugasawa, Syljuasen, Takashima, Taylor, Tebbs, Theunissen, Thorslund, Uziel, van der Burg, van der Horst, Varon, Verhagen, Vinters, Virag, Vrouwe, Waltes, Weeda, Weterings, Whitehouse, Williams, Williams, Xu, Yu, Yu, Yuce, Zecevic, Zecevic, Zhou, Zhou, Zhu, Zou   +157 more
core   +1 more source

Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy

Movement Disorders, Volume 39, Issue 11, Page 2049-2057, November 2024.
We describe a new adult‐onset neurodegenerative disease in dogs, clinically exhibiting slowly progressive ataxia and histopathologically characterized as neuroaxonal dystrophy. Genetic analyses identified a 1‐bp (base pair) deletion in RNF170 revealing that these dogs represent a naturally occurring model for autosomal recessive spastic paraplegia 85 ...
Shawna R. Cook, Cleo Schwarz, Julien Guevar, Charles‐Antoine Assenmacher, Maeve Sheehy, Nathan Fanzone, Molly E. Church, Leonardo Murgiano, Margret L. Casal, Vidhya Jagannathan, Rodrigo Gutierrez‐Quintana, Mark Lowrie, Frank Steffen, Tosso Leeb, Kari J. Ekenstedt   +14 more
wiley   +1 more source