Results 261 to 270 of about 78,237 (351)

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

PIEZO1-Primary Cilia Axis Mediates Compressive Stress-Induced Growth Plate Degeneration and Ossification in Adolescent Idiopathic Scoliosis. [PDF]

JOR Spine
Chen F, Chen S, Peng F, Du Y, Li J, Fan Y, Cui Z, Gu G, Zhang H, Jing X, Dong J, Li T, Xi Y.   +12 more
europepmc   +1 more source

Topiramate‐induced acute angle closure with suprachoroidal effusion: Insights from a novel ultra‐wide‐field OCT device

Acta Ophthalmologica, EarlyView.
Michael Hafner, Nicolas Pensel, Nicolas C. D. Scherer, Marc J. Mackert, Siegfried G. Priglinger, Leonie F. Keidel, Maximilian J. Gerhardt   +6 more
wiley   +1 more source

The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease

Clinical Genetics, EarlyView.
ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams, Wolfgang Berger, Samuel Koller, Fatma Kivrak Pfiffner, Alessandro Maspoli, Jiradet Gloggnitzer, Britta V. T. Brühwiler, Christina Stathopoulos, Francis Munier, Louise Allen, Christos Iosifidis, Graeme C. Black, Panagiotis I. Sergouniotis, Ian Christopher Lloyd, Christina Gerth‐Kahlert   +14 more
wiley   +1 more source

Borg3 controls septin polymerization for primary cilia formation. [PDF]

iScience
Schampera JN, Lehmann F, Meléndez AV, Schwan C.   +3 more
europepmc   +1 more source

A brief exposure to rotenone alters microtubule dynamics resulting in aberrant elongation of primary cilia with impaired function [PDF]

Priyadarshini Halder, Rupsa Mondal, Eshona Chakraborty, Shubhra Majumder   +3 more
openalex   +1 more source

Prevalence and Nationality Distribution of Known and Novel Genetic Variants in Children With Primary Ciliary Dyskinesia in the State of Qatar

Clinical Genetics, EarlyView.
CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab, Reem Mohamed, Amani Hamid, Hadeel Alzoubi, Donald R. Love, Kelly Robinson, Ibrahim Janahi, Mutasim Abu‐Hasan   +7 more
wiley   +1 more source

Aurora-A Promotes Cell-Cycle Progression From Quiescence Through Primary Cilia Disassembly. [PDF]

Cancer Sci
Kohso A, Inaba H, Kanemaki MT, Gabazza EC, Toyoda H, Hirayama M, Goto H.   +6 more
europepmc   +1 more source

Prostaglandin E2 and Progesterone Receptor Coordinately Regulate Primary Cilia for Proper Decidualization. [PDF]

FASEB J
Lee CJ, Tsai YC, Chen TY, Chao YY, Lin RC, Tsai HL, Wen JY, Tang TK, Tsai PY, Kuo PL, Wang CY.   +10 more
europepmc   +1 more source

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +1 more source