Results 51 to 60 of about 744 (162)

A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2 [PDF]

, 2012
Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33.
Kochański, Andrzej, Kabzińska, Dagmara, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Lipowska, Marta   +4 more
core  

Engineering programmable peptide hydrogels for chronic refractory wounds: A mechanism‐driven framework

BMEMat, EarlyView.
To break the self‐perpetuating pathology of chronic wounds, we propose a mechanism‐driven engineering framework for peptide‐based hydrogels. This review elucidates a hierarchical strategy—from molecular design to intelligent, multi‐functional systems—that enables these programmable biomaterials to dynamically intervene in key pathological loops and ...
Xiaoyu Lv, Xinyi Chao, Jiamin Zhang, Jianfeng Liu   +3 more
wiley   +1 more source

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

, 2006
Hereditary sensory and autonomic neuropathy type II (HSAN-II) is caused by recessive mutations in the HSN2 gene assigned to chromosome 12p13.33. The authors report three unrelated HSAN-II families with homozygous or compound heterozygous mutations ...
Salmhofer, W., Goemans, Nathalie, De Jonghe, P., Auer-Grumbach, M., Laurà, M., Scaioli, V., Timmerman, V., Coen, K., Pieber, T.R., Verpoorten, N., Claeys, Kristl, Nelis, E., Pareyson, D., Buyse, Gunnar   +13 more
core   +1 more source

The association between neural crest‐derived glia and melanocyte lineages throughout development and disease

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient cell population that emerges from the dorsal neural tube during neurulation and migrates extensively throughout the embryo. Among their diverse derivatives, glial cells (such as Schwann and satellite ganglionic cells) and melanocytes represent two major lineages. In vitro studies suggested they share a common
Chaya Kalcheim
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review

BMC Neurology
Background Hereditary sensory and autonomic neuropathy type 9 (HSAN9) is a rare genetic disorder caused by genetic alterations in the TECPR2 locus and is characterized by developmental and intellectual disability, respiratory dysfunction ...
Aysan Moeinafshar, Sahand Tehrani Fateh, Farzad Hashemi-Gorji, Parvaneh Karimzadeh, Elham Gholibeglou, Masoumeh Rostami, Hossein Sadeghi, Mohammad Miryounesi, Mohammad-Reza Ghasemi   +8 more
doaj   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Congenital insensitivity to pain with anhydrosis: report of a family case

The Pan African Medical Journal, 2011
Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV.
Smael Labib, Mohamed Adnane Berdai, Sanae abourazzak, Mustapha Hida, Mustapha Harandou   +4 more
doaj   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini, Mallorie P. Jenne, Michael L. Piacentino   +2 more
wiley   +1 more source