Results 141 to 150 of about 39,956 (278)

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Drafting the calmodulation playbook: Emerging structural insights into transient receptor potential channel regulation by calmodulin

The Journal of Physiology, EarlyView.
Abstract figure legend Calmodulin (CaM) is a ubiquitous calcium (Ca2+) sensor that translates intracellular Ca2+ signals into modulation of hundreds of effector proteins including ion channels. CaM is increasingly recognized as a key regulator of the transient receptor potential (TRP) channel family, yet the underlying ‘calmodulation playbook’ is only ...
Aden M. Alemayhu, Candice E. Paulsen
wiley   +1 more source

Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures

Journal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.
Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
wiley   +1 more source

Delayed diagnosis of skeletal dysplasia in a girl with cartilage-hair hypoplasia. [PDF]

JCEM Case Rep
Loid P, Kotanidou EP, Tsinopoulou VR, Galli-Tsinopoulou A, Mäkitie O.   +4 more
europepmc   +1 more source

Type-i Thanatophoric Dysplasia: Unraveling A Lethal Skeletal Disorder

, 2015
Type-I Thanatophoric Dysplasia is an uncommon and severe skeletal disorder characterized by abnormal bone development, leading to a lethal outcome shortly after birth.
Hariprasad, A. (A)
core  

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA. [PDF]

HGG Adv
Weaver KN, Broeckel JW, Brown K, Wasserman H, Wu J, Neal A, Prada CE, Kleinschmidt NL, Machal EMF, Bertinetti D, Ruiz-Perez VL, Taylor SS, Brugmann SA, Herberg FW.   +13 more
europepmc   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +1 more source

Skeletal Dysplasia (Thanatophoric Dysplasia)

Pediatric Oncall, 2012
Siva Saranappa S B, Madhu G N, Lakshmi V
openaire   +1 more source