anti-Family with Sequence Similarity 38, Member B (FAM38B) Antibodies

Human Family with Sequence Similarity 38, Member B (FAM38B) interaction partners

1. individuals with loss-of-function mutations in PIEZO2 completely failed to develop sensitization and painful reactions to touch after skin inflammation.

2. the presence of both Piezo1 and 2 in enteric neurons throughout the gastrointestinal tract from guinea pigs, mice and humans, were studied.

3. Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

4. The molecular defects identified through clinical exome sequencing in this study expands the phenotypic spectra of CHD7-associated disorders and implicate PIEZO2 as a candidate gene for major eye developmental defects.

5. This study identified Piezo2 mechanosensitive cationic channel as a transducer of environmental physical cues into mechanobiological responses.

6. The present results demonstrate the occurrence of Piezo2 in cutaneous sensory nerve formations that functionally work as slowly adapting (Merkel cells) and rapidly adapting (Meissner's corpuscles) low-threshold mechanoreceptors and are related to fine and discriminative touch but not to vibration or hard touch

7. Study demonstrate the splicing of Piezo2 to be cell type specific. Biophysical characterization revealed substantial differences in ion permeability, sensitivity to calcium modulation, and inactivation kinetics among Piezo2 splice variants.

8. we report the developmental phenotypic spectrum of familial Gordon syndrome in one family due to the previously characterized PIEZO2 mutation c.8057G>A.

9. Enterochromaffin cells in the human and mouse small bowel GI epithelium selectively express the mechanosensitive ion channel Piezo2, and also that activation of Piezo2 by force leads to inward currents, 5-HT release and an increase in mucosal secretion

10. The Piezo2 convert a variety of mechanical stimuli into channel activation and subsequent inactivation, and what molecules and mechanisms modulate Piezo function.

11. we report a consanguineous family with three siblings who showed short stature, scoliosis, gross motor impairment, and a progressive form of contractures involving the distal joints that is distinct from that found in patients with domina Recessive mutations in PIEZO2 thus appear to cause a progressive phenotype that overlaps with, while being mostly distinct from that associated with dominant mutations in the same gene

12. Sensory ataxia and proprioception defect with dorsal column involvement together with arthrogryposis, myopathy, scoliosis and progressive respiratory failure may represent a distinct clinical phenotype, and indicate recessive mutations in PIEZO2

13. We identified homozygous loss of function variants in PIEZO2 as the underlying cause for an autosomal-recessive distal muscular atrophy with arthrogryposis, kyphoscoliosis, and neonatal respiratory insufficiency distinct from previously described dominant PIEZO2 diseases.

14. Our results show that PIEZO2 is a determinant of mechanosensation in humans.

15. Transgenic mouse lines lacking Piezo2 in proprioceptive neurons showed severely uncoordinated body movements.

16. Whole-exome sequencing revealed a novel heterozygous mutation c.4456G>C (p.A1486P) of PIEZO2.

17. family of mechanically activated channels that counts only two members in human, piezo1 and 2, has emerged recently. [review]

18. we demonstrate that the mechanosensitivity of human embryonic stem cell-derived touch receptors depends on PIEZO2

19. this study used exome sequencing to discover that mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

20. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

Mouse (Murine) Family with Sequence Similarity 38, Member B (FAM38B) interaction partners

1. individuals with loss-of-function mutations in PIEZO2 completely failed to develop sensitization and painful reactions to touch after skin inflammation.

2. Piezo2 mediates inflammation- and nerve injury-induced sensitized mechanical pain.

3. we identified a PI(3,5)P2 binding region in Piezo2, but not Piezo1, that confers sensitivity to Mtmr2 as indicated by functional analysis of a domain-swapped Piezo2 mutant. Altogether, our results propose local PI(3,5)P2 modulation via Mtmr2 in the vicinity of Piezo2 as a novel mechanism to dynamically control Piezo2-dependent mechanotransduction in peripheral sensory neurons.

4. the presence of both Piezo1 and 2 in enteric neurons throughout the gastrointestinal tract from guinea pigs, mice and humans, were studied.

5. These findings suggest that PIEZO1 and PIEZO2 are the long-sought baroreceptor mechanosensors critical for acute blood pressure control.

6. Study establishes the role of epithelial Piezo2 mechanosensitive ion channels in regulation of intestinal physiology.

7. Mechanoinsensitive ''silent'' nociceptors are characterized by the expression of the nicotinic acetylcholine receptor subunit alpha-3 (CHRNA3); the mechanically gated ion channel PIEZO2 mediates NGF-induced mechanosensitivity in these neurons.

8. Targeted genetic deletion of Merkel cells and associated mechanosensitive Piezo2 channels in the skin was sufficient to produce alloknesis.

9. Study demonstrate the splicing of Piezo2 to be cell type specific. Biophysical characterization revealed substantial differences in ion permeability, sensitivity to calcium modulation, and inactivation kinetics among Piezo2 splice variants.

10. Data provide evidence that Piezo2 plays a critical role in a defined homogeneous population of proprioceptor neurons that innervate the head muscles, demonstrating that this ion channel is essential for mammalian proprioceptive mechanotransduction.

11. Piezo ion channels act as frequency filters of both the onset and continuation of repetitive mechanical stimuli.

12. Data show that Piezo2 knockdown led to decreased glioma angiogenesis and reduced vascular hyperpermeability.

13. experiments demonstrate a role for Pericentrin in modulating Piezo2 activity and membrane expression in somatosensory neurons

14. Enterochromaffin cells in the human and mouse small bowel GI epithelium selectively express the mechanosensitive ion channel Piezo2, and also that activation of Piezo2 by force leads to inward currents, 5-HT release and an increase in mucosal secretion

15. Piezo2 is an airway stretch sensor; Piezo2-mediated mechanotransduction within various airway-innervating sensory neurons is critical for establishing efficient respiration at birth and maintaining normal breathing in adult mice

16. Astrocytes in optic nerve head express multiple mechanosensitive channels, in particular Piezo1 and 2. The expression of putative mechanosensitive channels in these cells may contribute to their responsiveness to traumatic or glaucomatous injury.

17. lysine substitution of E2416 alters conductance, ion selectivity and pore block of the channel

18. mice lacking Piezo2 in both adult sensory neurons and Merkel cells exhibit a profound loss of touch sensation

19. engineered mice deficient in Piezo2 in the skin, but not in sensory neurons, show that Merkel-cell mechanosensitivity completely depends on Piezo2

20. data indicate that the Epac1-Piezo2 axis has a role in the development of mechanical allodynia during neuropathic pain