Results 61 to 70 of about 9,985 (202)

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

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
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

Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination [PDF]

, 2019
Oculodentodigital dysplasia is an autosomal dominant disorder due to variants characterized by dysmorphic features. Neurologic symptoms have been described in some patients but without a clear neuroimaging pattern.
Verny, C., O. Boespflug-Tanguy, F. Mochel, P. Charles, Saint-Val, L., M. Catala, C. Verny, R. Schiffmann, Schiffmann, R., Mochel, F., L. Saint-Val, T. Courtin, Catala, M., Charles, P., Courtin, T., Boespflug-Tanguy, O.   +15 more
core   +1 more source

Chemogenetic activation of astrocytes promotes remyelination and restores cognitive deficits in visceral hypersensitive rats

iScience, 2023
Summary: Using a well-established chronic visceral hypersensitivity (VH) rat model, we characterized the decrease of myelin basic protein, reduced number of mature oligodendrocytes (OLs), and hypomyelination in the anterior cingulate cortex (ACC).
Mahadi Hasan, Zhuogui Lei, Mastura Akter, Zafar Iqbal, Faeeqa Usaila, Aruna Surendran Ramkrishnan, Ying Li   +6 more
doaj   +1 more source

Leukodystrophy in Tanzania: A Case Study Highlighting Diagnostic Dilemmas and Clinical Implications

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT Leukodystrophies are rare inherited neurodegenerative disorders characterized by progressive white matter dysfunction and neurological decline. In low‐resource settings, limited access to advanced neuroimaging, biochemical investigations, and genetic testing often delays diagnosis and complicates differentiation from more common infectious ...
William Nkenguye, Mujaheed Suleman, Jay Lodhia   +2 more
wiley   +1 more source

RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

Annals of Clinical and Translational Neurology, 2019
AbstractObjectiveBiallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1‐related disease, and to identify possible genotype‐phenotype relationships.MethodsWe performed a ...
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah von Spiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van der Knaap, Nicole I. Wolf   +31 more
openaire   +7 more sources

AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination [PDF]

, 2021
Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD‐H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy.
Nicholas Simon Thomas, Burren, C.P., Edgerley, K., Williams, Maggie, Amaka C. Offiah, Barnicoat, Angela, Sarah F. Smithson, Hilliard, Tom, Thomas, Nicholas Simon, Monsell, F., Arniban Majumdar, Vijayakumar, K., Calder, Alistair D, Bunyan, David J, Maggie Williams, Kshitij Mankad, Offiah, Amaka C, Mankad, Kshitij, Mankad, K., Thomas, N.S., Buxton, Chris, Smithson, Sarah F, Bunyan, D.J., Kayal Vijayakumar, Tom Hilliard, Fergal Monsell, Angela Barnicoat, Turner, J., Christine P. Burren, Edgerley, Katharine, Burren, Christine P, Majumdar, Arniban, Williams, M., Hilliard, T., Alistair D. Calder, Turner, James, Buxton, C., Katharine Edgerley, Vijayakumar, Kayal, Chris Buxton, Smithson, S.F., James Turner, Barnicoat, A., Monsell, Fergal, David J. Bunyan, Offiah, A.C., Calder, A.D., Majumdar, A.   +47 more
core   +1 more source

Sirt2 promotes white matter oligodendrogenesis during development and in models of neonatal hypoxia

Nature Communications, 2022
Neonatal hypoxia leads to white matter hypomyelination due to delayed oligodendrocyte maturation. The authors identify Sirt2 as a crucial regulator of oligodendrocyte differentiation during normal white matter development and in response to hypoxia.
Beata Jablonska, Katrina L. Adams, Panagiotis Kratimenos, Zhen Li, Emma Strickland, Tarik F. Haydar, Katharina Kusch, Klaus-Armin Nave, Vittorio Gallo   +8 more
doaj   +1 more source

Diffuse hypomyelination is not obligate for POLR3-related disorders

, 2016
To report atypical MRI patterns associated with POLR3A and POLR3B mutations. This was a multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI ...
La Piana, Roberta, van der Knaap, M.S., van Spaendonk, Rosalina, Onay, Huseyin, Tran, Luan T., Patel, Chirag, van der Knaap, Marjo S., Bernard, G., Bernard, Geneviève, van Spaendonk, R., Patel, C., Cayami, F.K., Poll-Thé, Bwee T., Wolf, N.I., Ozkınay, F., Vanderver, A., Wassmer, Evangeline, Atik, Tahir, Mierzewska, H., Cox, H., Vanderver, Adeline, Wassmer, E., Cayami, Ferdy K., la Piana, R., Atik, T., Õunap, Katrin, Haack, T.B., Timmann, D., Pajusalu, S., Ozkinay, Ferda, Wolf, Nicole I., Guerrero, K., Guerrero, Kether, Poll-The, B.T., Ounap, K., Haack, Tobias, Tran, L.T., Pajusalu, Sander, Timmann, Dagmar, Ozkınay, Ferda, Mierzewska, Hanna, Cox, Helen, Onay, H.   +42 more
core   +1 more source

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

Molecular Genetics & Genomic Medicine
Background POLIII‐related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype.
Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy, Ilhem Ben Youssef‐Turki, Mediha Trabelsi, Imen Dorboz   +12 more
doaj   +1 more source

The E3 Ubiquitin Ligase RLIM Safeguards Oligodendrocyte Development and Myelination by Targeting SLC7A11 for Polyubiquitination to Regulate Ferroptotic Resistance

Advanced Science, Volume 13, Issue 53, 24 September 2026.
RLIM‐mediated SLC7A11 polyubiquitination is required for SPTBN2‐mediated trafficking and membrane localization of SLC7A11, which enables oligodendrocyte precursor cells to be resistant to ferroptosis and safeguards oligodendrocyte lineage progression and thus myelination.
Yuwei Li, Haijun Zhang, Jieya Zhou, Shiyu Yang, Jingmei Cha, Gaofeng Yan, Shuhua Zhao, Bingyu Mao, Pengcheng Ma   +8 more
wiley   +1 more source