Results 131 to 140 of about 440,897 (265)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Maternal effects drive intestinal development beginning in the embryonic period on the basis of maternal immune and microbial transfer in chickens. [PDF]

Microbiome, 2023
Gong H, Wang T, Wu M, Chu Q, Lan H, Lang W, Zhu L, Song Y, Zhou Y, Wen Q, Yu J, Wang B, Zheng X.   +12 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Maternal effects do not resolve the paradox of stasis in birth weight in a wild red deer populaton. [PDF]

Evolution, 2022
Gauzere J, Pemberton JM, Kruuk LEB, Morris A, Morris S, Walling CA.   +5 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Maternal effects on postembryonic neuroblast migration in Caenorhabditis elegans. [PDF]

G3 (Bethesda)
Poon H, Zheng C.
europepmc   +1 more source

The early life microbiota mediates maternal effects on offspring growth in a nonhuman primate. [PDF]

iScience, 2022
Petrullo L, Baniel A, Jorgensen MJ, Sams S, Snyder-Mackler N, Lu A.   +5 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Maternal effects of choline on skeletal muscle development and intramuscular fat deposition in broiler offspring. [PDF]

Poult Sci
Gao M, Han Q, Zhu Q, Li D, Li X, Lv Z, Guo Y.   +6 more
europepmc   +1 more source