Results 221 to 230 of about 359,607 (329)

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Inhibiting microtubule polymerization with EAPB02303, a prodrug activated by catechol-O-methyl transferase, enhances paclitaxel effect in pancreatic cancer models. [PDF]

Cell Death Dis
Bigot K, Patinote C, Garambois V, Chouchou A, Gayraud-Paniagua S, Vie N, Maggipinto Y, Smyej E, Robin M, Machu M, Bruciamacchie M, Colombo PE, Bousquet C, Mathonnet M, Levy-Augé E, Tosi D, Bonnet PA, Gongora C, Deleuze-Masquéfa C, Larbouret C.   +19 more
europepmc   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Lowering Ionic Strength Improves the Sensitivity of Microtubule Gliding Assay Based Molecular Detection. [PDF]

Nano Lett
V R EC, Kloth ECS, Nisini F, Reuther C, Diez S.   +4 more
europepmc   +1 more source

Comparison of the Microtubule Proteins of Neuroblastoma Cells, Brain, and Chlamydomonas Flagella

, 1971
J.B. Olmsted, George B. Witman, Kathryn E. Carlson, Joel L. Rosenbaum   +3 more
openalex   +1 more source

Notizen: Cross-Bridges Between Intramacronuclear Microtubules and Inner Nuclear Membrane [PDF]

, 1971
Werner W. Franke
openalex   +1 more source

Genetics of Response to ECT, TMS, Ketamine and Esketamine

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Treatment‐resistant mood disorders are often managed with intensive interventions that include electroconvulsive therapy (ECT), transcranial magnetic stimulation (TMS), ketamine, and esketamine, but the role of genetics in clinical response to those interventions is yet to be clearly determined.
Clio E. Franklin, Murat Altinay, Kala Bailey, Mahendra T. Bhati, Brent R. Carr, Susan K. Conroy, Khurshid Khurshid, William M. McDonald, Brian J. Mickey, James W. Murrough, Sean M. Nestor, Thomas Nickl‐Jockschat, Irving M. Reti, Gerard Sanacora, Nicholas T. Trapp, Biju Viswanath, Jesse H. Wright, Peter P. Zandi, James B. Potash   +18 more
wiley   +1 more source

Transplanting neural stem cells overexpressing miRNA‐21 can promote neural recovery after cerebral hemorrhage through the SOX2/LIN28‐let‐7 signaling pathway

Animal Models and Experimental Medicine, EarlyView.
Abstract Background Intracerebral hemorrhage (ICH) remains a devastating neurological disorder with limited therapeutic options. Neural stem cell (NSC)‐based therapies have emerged as a potential regenerative approach, yet the molecular mechanisms regulating NSC behavior require further elucidation.
Wei Dai, Yongxia Li, Jiarui Du, Gang Shen, Meimei Fan, Zuopeng Su, Fulin Xu, Fang Yuan   +7 more
wiley   +1 more source

Elite haplotype of STRONG1 enhances rice yield by improving lodging resistance, panicle and plant architecture. [PDF]

Nat Commun
Zhao Y, Gao J, Wang X, Rashid MAR, Wu Z, Ma Z, Wu H, Xu B, Wu Z, Gu Y, Pan Y, Li D, Wang R, Guo Z, Ma W, Sun X, Li J, Zhang H, Mao T, Zhang Z, Li Z.   +20 more
europepmc   +1 more source