Results 161 to 170 of about 131,190 (318)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

MICROTUBULE BIOGENESIS AND CELL SHAPE IN OCHROMONAS [PDF]

, 1973
G. Benjamin Bouck, David L. Brown
openalex   +1 more source

Potential New Expression Biomarkers for Anorexia Nervosa

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Anorexia nervosa (AN) is a psychiatric disorder with an estimated heritability of around 70%. Although the largest meta‐analysis of genome‐wide association studies on AN identified independent risk‐conferring loci for the disorder, the molecular mechanisms underlying the genetic basis of AN remain to be elucidated.
Camille Verebi, Nicolas Lebrun, Justine Vily Petit, Odile Viltart, Philibert Duriez, Benjamin Saint‐Pierre, Philip Gorwood, Nicolas Ramoz, Thierry Bienvenu   +8 more
wiley   +1 more source

MICROTUBULE PROTEIN [PDF]

, 1971
Howard Feit, Gary R. Dutton, Samuel H. Barondes, Michael L. Shelanski   +3 more
openalex   +1 more source

Alzheimer's Association clinical practice guideline for the Diagnostic Evaluation, Testing, Counseling, and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD‐ADRD): Executive summary of recommendations for primary care

Alzheimer's &Dementia, EarlyView.
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri, Bradford C. Dickerson, Carolyn Clevenger, Jason Karlawish, David Knopman, Pei‐Jung Lin, Mary Norman, Chiadi Onyike, Mary Sano, Susan Scanland, Maria Carrillo   +10 more
wiley   +1 more source

Prodrugs of the Archetypal Dynamin Inhibitor Bis‐T‐22

ChemMedChem, Volume 17, Issue 24, December 16, 2022., 2022
The Bis‐T series of compounds comprise some of the most potent inhibitors of dynamin GTPase activity yet reported, such as Bis‐T‐22 (2). The catechol moieties are believed to limit cell permeability, rendering these compounds largely inactive in cells.
Luke R. Odell, Mark J Robertson, Kelly A Young, Andrew B. McGeachie, Annie Quan, Phillip J. Robinson, Adam McCluskey   +6 more
wiley   +1 more source

Assembly of microtubules from preformed, ring‐shaped protofilaments and 6‐s tubulin [PDF]

, 1974
Harold Erickson
openalex   +1 more source

The tau isoform 1N4R confers vulnerability of MAPT knockout human iPSC‐derived neurons to amyloid beta and phosphorylated tau‐induced neuronal dysfunction

Alzheimer's &Dementia, EarlyView.
Abstract INTRODUCTION Human tau protein, composed of six brain‐specific isoforms, is a major driver of Alzheimer's disease (AD). The role of its isoforms however remains unclear and human AD models are scarce. METHODS We generated human MAPT– (tau–) knockout (KO) induced pluripotent stem cells (iPSC) using CRISPR/Cas9, differentiated these into ...
Sarah Buchholz, Mohamed Aghyad Al Kabbani, Michael Bell‐Simons, Lena Kluge, Cagla Cagmak, Jennifer Klimek, Natja Haag, Lukas C. Iohan, Audrey Coulon, Marcos R. Costa, Devrim Kilinc, Hans Zempel   +11 more
wiley   +1 more source

BALD-2: a mutation affecting the formation of doublet and triplet sets of microtubules in Chlamydomonas reinhardtii. [PDF]

, 1975
Ursula Goodenough, H S StClair
openalex   +1 more source

Microtubules & Microtubule-associated Proteins [PDF]

Biophysical Journal, 2008
openaire   +1 more source