Results 61 to 70 of about 1,836 (142)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28 [PDF]

, 2002
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8.
Schwartz, Charles E., Salomons, Gajja S., Taylor, Harold A., Schroer, Richard J., Jakobs, Cornelis, Stevenson, Roger E., Wood, Tim C., Olson, Rick L., Tackels-Horne, Darci, Lubs, Herbert A., Hahn, Kimberly A., Holden, Kenton R.   +11 more
core   +1 more source

Epigenetic‐Based Evidence for Distinct Effects of Age, Sex, and Experience in Developmental Critical Period Learning

Developmental Neurobiology, Volume 86, Issue 3, July 2026.
ABSTRACT Although much is known about the encoding of experience, how the brain organizes neural circuits capable of learning and memory formation is largely unstudied. Canonical critical periods emerge from a convergence of maturation‐ and experience‐dependent processes.
Grant W. Kunzelman, Alice Batistuzzo, Sarah E. London   +2 more
wiley   +1 more source

Creatine transporter deficiency: Novel mutations and functional studies

Molecular Genetics and Metabolism Reports, 2016
X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel.
O. Ardon, M. Procter, R. Mao, N. Longo, Y.E. Landau, A. Shilon-Hadass, L.V. Gabis, C. Hoffmann, M. Tzadok, G. Heimer, S. Sada, B. Ben-Zeev, Y. Anikster   +12 more
doaj   +1 more source

Conservation Status of Two Italian Local Poultry Breeds: Faraona Camosciata and Oca Padovana

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT The present study aimed to assess the conservation status and characterize the phenotypic and genomic diversity of two endangered Italian poultry genetic resources to guide their conservation plans. Blood samples and morphometric data were collected on 50 Faraona Camosciata (FAC, Numida meleagris) and 50 Oca Padovana (OPD, Anser anser) adult ...
Filippo Cendron, Enrico Bortoletto, Francesco Perini, Maristella Baruchello, Umberto Rosani, Emiliano Lasagna, Martino Cassandro, Mauro Penasa   +7 more
wiley   +1 more source

Endogenously generated Dutch‐type Aβ non‐fibrillar aggregates dysregulate presynaptic neurotransmission in the absence of detectable inflammation

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract BACKGROUND APPE693Q (“Dutch”) transgenic mice develop aging‐related learning deficits and accumulate endogenously generated non‐fibrillar aggregates (NFAs) of amyloid beta (Aβ) and amyloid precursor protein α‐carboxy terminal fragments. NFA‐Aβ correlates with synaptic loss and memory deficits more closely than does fibrillar Aβ.
Emilie L. Castranio, Merina Varghese, Elentina K. Argyrousi, Kuldeep Tripathi, Yong Huang, Akiko Asada, Linda Söderberg, Erin Bresnahan, David Lerner, Francesca Garretti, Hong Zhang, Jonathan van de Loo, Cheryl D. Stimpson, Ronan Talty, Charles Glabe, Efrat Levy, Minghui Wang, Marjan Ilkov, Toshiharu Suzuki, Kanae Ando, Bin Zhang, Lars Lannfelt, Brigitte Guérin, William D. Lubell, Shai Rahimipour, Dara L. Dickstein, Sam Gandy, Ottavio Arancio, Michelle E. Ehrlich   +28 more
wiley   +1 more source

Characterization of novel SLC6A8 variants with the use of splice-site analysis tool and implementation of a newly developed LOVD database [PDF]

, 2010
The X-linked creatine transporter defect is caused by mutations in the SLC6A8 gene. Until now, 66 synonymous and intronic variants in SLC6A8 were detected in our laboratory.
Betsalel, O.T., Ofir T Betsalel, Johan T den Dunnen, Valayannopoulos, V., Charles E Schwartz, Philipp Wolf, Poplawski, N., Salomons, G.S., Wolf, P., Gajja S Salomons, den Dunnen, J., Abdul-Rahman, O., Vassili Valayannopoulos, Nicola Poplawski, Rosenberg, E.H., den Dunnen, J.T., Laura Vilarinho, Jakobs, C.A.J.M., Abdul-Rahman, O.A., Salomons, G., Efraim H Rosenberg, Schwartz, C.E., Schwartz, C., Tjitske Kleefstra, Ligia S Almeida, Dunnen, J.T. den, Jakobs, C., Vilarinho, L., Betsalel, O., Cornelis Jakobs, Rosenberg, E., Kleefstra, T., Almeida, L.S., Almeida, L., Omar Abdul-Rahman   +34 more
core   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]

, 2018
Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
core  

Spatial metabolomics highlights metabolic reprogramming in acute myeloid leukemia mice through creatine pathway

Acta Pharmaceutica Sinica B
Acute myeloid leukemia (AML) is recognized as an aggressive cancer that is characterized by significant metabolic reprogramming. Here, we applied spatial metabolomics to achieve high-throughput, in situ identification of metabolites within the liver ...
Yucheng Bao, Jing Qiao, Wenjie Gong, Ruihong Zhang, Yanting Zhou, Yinyin Xie, Yuan Xie, Jiuming He, Tong Yin   +8 more
doaj   +1 more source