Results 141 to 150 of about 8,764 (251)

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Advanced Generation Seed Orchard of <i>Abies alba</i> Mill. in Romania Combining Genetic Gain and Diversity. [PDF]

Plants (Basel)
Mihai G, Alexandru AM, Teodosiu M, Stoica E, Garbacea P, Ifrim L.   +5 more
europepmc   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Machine Learning-Based Accurate Full-Sib Family Assignment in Sturgeon Using Whole-Genome Sequencing Data. [PDF]

Int J Mol Sci
Yan J, Li H, Dong T, Wang W, Yan X, Bai S, Song H, Hu H.   +7 more
europepmc   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Development and Applications of a 1K SNP Panel for Whiteleg Shrimp: From Pedigree Reconstruction to Genomic Selection. [PDF]

Int J Mol Sci
Fu Q, Qiang G, Wang P, Liu M, Luo K, Chen B, Meng X, Zou X, Dai P, Liu J, Zhang S, Kong J, Luan S.   +12 more
europepmc   +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

Structural and Functional Siderophore Remodeling by Enzymatic Delipidation

Angewandte Chemie, EarlyView.
A surprising functional switch in bacterial siderophores was discovered through genome mining and the analysis of environmental and pathogenic Pandoraea species. Pandorachelin B, a lipocyclopeptide that promotes swarming motility, is cleaved by a specialized acylase, yielding a ring‐contracted, homodetic cyclopeptide, pandorachelin A, which exhibits ...
Elena Herzog, Keishi Ishida, Evelyn M. Molloy, Ron Hermenau, Kirstin Scherlach, Christian Hertweck   +5 more
wiley   +2 more sources

Heritability of the <i>Pinus radiata</i> root microbiome. [PDF]

Front Plant Sci
Graham NJ, Slavov G, Wakelin SA, Klápště J, Day NJ.   +4 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source