Results 161 to 170 of about 406,691 (285)

Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia. [PDF]

Mol Genet Genomic Med
Yang Q, He W, Zhang Q, Yi S, Zhou X, Wang L, Yi S, Qin Z, Luo J.   +8 more
europepmc   +1 more source

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

Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice. [PDF]

JCI Insight
Nevarez L, Ismaili TK, Zieba J, Martin J, Wachtell D, Diaz D, Ramirez JA, Aceves V, Ito J, Gray RS, Goldstein D, Sahdeo S, Krakow D, Cohn DH.   +13 more
europepmc   +1 more source

Skeletal Dysplasias [PDF]

Journal of Medical Genetics, 1975
openaire   +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

Mucopolysaccharidosis or Skeletal Dysplasia? Clinical and Radiologic Clues for Differential Diagnosis Based on Difficult Cases [PDF]

J Clin Res Pediatr Endocrinol
Akyüz A, Atalar H, Çilesiz K, İnci A, Okur İ, Tümer L, Ezgü F.   +6 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2409-2419, November 2026.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Skeletal dysplasia and growth disorder with <i>SEC23A</i> p.Arg716Cys variant-related cranio-lenticulo-sutural dysplasia. [PDF]

Clin Pediatr Endocrinol
Yagasaki H, Narusawa H, Watanabe D, Nagata M, Yonei A, Asano Y, Aoyagi K, Inukai T.   +7 more
europepmc   +1 more source

Giant Central Ossifying Fibroma of the Anterior Maxilla and Maxillary Sinus With Orbital Floor Extension: A Case Report

Clinical Case Reports, Volume 14, Issue 11, November 2026.
ABSTRACT A 25‐year‐old woman presented with a giant conventional ossifying fibroma of the anterior maxilla extending into the maxillary sinus and elevating the orbital floor. Complete intraoral enucleation preserved the lateral incisor. Histopathology confirmed conventional ossifying fibroma. No recurrence occurred at 12 months, supporting conservative
Ahmed Alashwal, Naibah Rajeh, Arham M. Alkherbash, Ahmed Madfa   +3 more
wiley   +1 more source

Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review. [PDF]

World J Methodol
Tsirikos AI, Jain A, Ahuja K.
europepmc   +1 more source