Results 221 to 230 of about 225,378 (345)

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

Centromeres in the thermotolerant yeast K. marxianus mediate attachment to a single microtubule. [PDF]

Chromosome Res
Barrero DJ, Hedouin S, Mao Y, Asbury CL, Stergachis AB, O'Toole E, Biggins S.   +6 more
europepmc   +1 more source

The Chemical Characterization of Calf Brain Microtubule Protein Subunits

, 1973
James Lee, Ronald P. Frigon, Serge N. Timasheff   +2 more
openalex   +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

EML2 and EML4 splice variants regulate microtubule remodeling during neuronal cell differentiation. [PDF]

J Biol Chem
Marasi V, Adib R, O'Regan L, Straatman KR, Prigent SA, Fry AM.   +5 more
europepmc   +1 more source

Microtubule Assembly and Function in Chlamydomonas : Inhibition of Growth and Flagellar Regeneration by Antitubulins and Other Drugs and Isolation of Resistant Mutants [PDF]

, 1974
Martin Flavin, Clarence Slaughter
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

Hedgehog signaling controls astral microtubules and mitotic spindle orientation in neural progenitors and iPSCs. [PDF]

Front Cell Dev Biol
Liu F, Medyukhina A, Olesen KM, Shirinifard A, Jin H, Li L, Mapelli M, Khairy K, Han YG.   +8 more
europepmc   +1 more source

Binding of adenovirus to microtubules. II. Depletion of high-molecular-weight microtubule-associated protein content reduces specificity of in vitro binding [PDF]

, 1977
J A Weatherbee, Ronald B. Luftig, Robert R. Weihing   +2 more
openalex   +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