Results 51 to 60 of about 1,383 (138)

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, Volume 108, Issue 6, Page 696-707, December 2025.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +1 more source

Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe

The Turkish Journal of Pediatrics, 2013
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction.
Rezan Topaloğlu, Michael Ludwig, Aslı Çelebi Tayfur   +2 more
doaj  

Tissue-specific tagging of endogenous loci in Drosophila melanogaster

Biology Open, 2016
Fluorescent protein tags have revolutionized cell and developmental biology, and in combination with binary expression systems they enable diverse tissue-specific studies of protein function.
Kate Koles, Anna R. Yeh, Avital A. Rodal
doaj   +1 more source

Gαq signalling from endosomes: A new conundrum

British Journal of Pharmacology, Volume 182, Issue 14, Page 3068-3089, July 2025.
Abstract G‐protein‐coupled receptors (GPCRs) constitute the largest family of membrane receptors, and are involved in the transmission of a variety of extracellular stimuli such as hormones, neurotransmitters, light and odorants into intracellular responses.
Carole Daly, Bianca Plouffe
wiley   +1 more source

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

Journal of Genetic Counseling, Volume 34, Issue 2, April 2025.
Abstract The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X‐linked (XL) disorders without the constraints of a predetermined ...
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan   +13 more
wiley   +1 more source

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Disease Models & Mechanisms, 2020
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes.
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan   +19 more
doaj   +1 more source

Domain‐Shuffling in the Evolution of Cyclostomes and Gnathostomes

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, Volume 344, Issue 2, Page 59-79, March 2025.
We addressed the potential roles of domain‐shuffling origin genes (DSO‐Gs) in the evolution of early vertebrates. Through comparative genome analysis of 22 metazoans, including four cyclostomes, we identified DSO‐Gs before and after the divergence of cyclostomes and gnathostomes, and suggest domain shuffling as a key mechanism in vertebrate early ...
Hirofumi Kariyayama, Takeshi Kawashima, Hiroshi Wada, Haruka Ozaki   +3 more
wiley   +1 more source

Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India [PDF]

Journal of Krishna Institute of Medical Sciences University, 2014
Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase.
Dipankar Das, Shoumini Chakravarty, Jaydeb Ray   +2 more
doaj  

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Molecular and mechanical mechanisms of animal cell abscission

FEBS Letters, Volume 599, Issue 3, Page 297-298, February 2025.
Cytokinesis leads to the distribution of segregated chromosomes, membrane, and cytoplasmic material in the two daughter cells, and ultimately concludes with abscission, their physical separation. In this Graphical Review, we outline the key events that lead to abscission and discuss mechanisms of delayed abscisison.
Amber Öztop, Agathe Chaigne
wiley   +1 more source