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1.
BMC Plant Biol ; 24(1): 459, 2024 May 27.
Article in English | MEDLINE | ID: mdl-38797839

ABSTRACT

BACKGROUND: Relict species are important for enhancing the understanding of modern biogeographic distribution patterns. Although both geological and climatic changes since the Cenozoic have affected the relict flora in East Asia, the contributions of geographical processes remain unclear. In this study, we employed restriction-site associated DNA sequencing (RAD-seq) and shallow genome sequencing data, in conjunction with ecological niche modeling (ENM), to investigate the spatial genetic patterns and population differentiation history of the relict species Rehderodendron kwangtungense Chun. RESULTS: A total of 138 individuals from 16 populations were collected, largely covering the natural distribution of R. kwangtungense. The genetic diversity within the R. kwangtungense populations was extremely low (HO = 0.048 ± 0.019; HE = 0.033 ± 0.011). Mantel tests revealed isolation-by-distance pattern (R2 = 0.38, P < 0.001), and AMOVA analysis showed that the genetic variation of R. kwangtungense occurs mainly between populations (86.88%, K = 7). Between 23 and 21 Ma, R. kwangtungense underwent a period of rapid differentiation that coincided with the rise of the Himalayas and the establishment of the East Asian monsoon. According to ENM and population demographic history, the suitable area and effective population size of R. kwangtungense decreased sharply during the glacial period and expanded after the last glacial maximum (LGM). CONCLUSION: Our study shows that the distribution pattern of southern China mountain relict flora may have developed during the panplain stage between the middle Oligocene and the early Miocene. Then, the flora later fragmented under the force of orogenesis, including intermittent uplift during the Cenozoic Himalayan orogeny and the formation of abundant rainfall associated with the East Asian monsoon. The findings emphasized the predominant role of geographical processes in shaping relict plant distribution patterns.


Subject(s)
Climate Change , Genetic Variation , Phylogeography , Asia, Eastern , Plant Dispersal , Sequence Analysis, DNA
2.
Article in English | MEDLINE | ID: mdl-38442738

ABSTRACT

BACKGROUND: X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by phosphate regulating endopeptidase homolog X-linked (PHEX) gene mutation. At present, the genotype-phenotype relationship of XLHR and the pathogenic role of PHEX have not been fully understood. METHODS: In this study, we summarized clinical features in a new cohort of 49 HR patients and detected 16 novel PHEX and 5 novel non-PHEX variants. Subsequently, we studied the pathogenesis of new variants by protein expression, glycosylation analysis, subcellular localization and endopeptidase activity. RESULTS: The results showed that missense variants (Q189H and X750R) slightly reduced protein expression without obviously altering protein length and localization, whereas truncating variants significantly impaired the synthesis of PHEX and produced a shorter immature protein in cells. Interestingly, no evident correlation was observed between mutation types and clinical phenotypes. However, when we analyzed the relationship between PHEX activity and serum phosphorus level, we found that patients with low PHEX activity tended to have severe hypophosphatemia and high rickets severity score (RSS). Following this observation, we established two new knock-in XLHR mouse models with two novel Phex variants (c.T1349C and c.C426G, respectively) using CRISPR/Cas9 technology. Both mouse models demonstrated clinical manifestations of XLHR seen in patients and PhexC426G mice showed more severe phenotype than PhexT1349C mice, which further confirmed the rationality of genotype-PHEX enzymatic activity correlation analysis. CONCLUSION: Therefore, our findings demonstrated that novel PHEX variants could disrupt protein function via affecting protein synthesis, post-translational modification, cellular trafficking and catalytic activity. Our study facilitates a better understanding of XLHR pathogenic mechanism and PHEX activity-phenotype correlation, which is of crucial importance for future diagnosis and treatment of XLHR.

3.
Nano Lett ; 24(9): 2831-2838, 2024 Mar 06.
Article in English | MEDLINE | ID: mdl-38385633

ABSTRACT

High-entropy borides hold potential as electrocatalysts for water oxidation. However, the synthesis of the tailored nanostructures remains a challenge due to the thermodynamic immiscibility of polymetallic components. Herein, a FeCoCuMnRuB nanobox decorated with a nanosheet array was synthesized for the first time by a "coordination-etch-reduction" method. The FeCoCuMnRuB nanobox has various structural characteristics to express the catalytic performance; meanwhile, it combines the high-entropy effect of multiple components with the electron trap effect induced by electron-deficient B, synergistically regulating its electronic structure. As a result, FeCoCuMnRuB nanobox exhibits enhanced OER activity with a low overpotential (η10 = 233 mV), high TOF value (0.0539 s-1), small Tafel slope (61 mV/dec), and a satisfactory stability for 200 h, outperforming the high-entropy alloy and low-entropy borides. This work develops a high entropy and electron-deficient B-driven strategy for motivating the catalytic performance of water oxidation, which broadens the structural diversity and category of high-entropy materials.

4.
Heliyon ; 9(7): e17993, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37539158

ABSTRACT

Considering rapid climate change and its effects, an increasing number of enterprises are paying more attention to environmental protection behavior in order to realize their green innovation activities. However, environmental leadership is critical for delivering green innovation in business and industry. As such, can environmental leadership promote the green innovation performance of enterprises? If so, what is the influence mechanism? In the previous research on environmental leadership, the impact of environmental leadership on the green innovation performance of enterprises had not yet been effectively explored. Therefore, drawing on a resource-based view, this study explored the mechanism through which environmental leadership influences a firm's green innovation performance. In this study, with the help of the mature scale at home and abroad, variables were measured, and the relationship between variables was verified by multiple regression analysis using samples collected from 224 heavy-polluting enterprises in western China at multiple time points. It was found that (1) environmental leadership has significant positive effects on green product innovation performance and green process innovation performance; (2) proactive environmental strategies partly mediate the relationships between environmental leadership and green product, as well as green process innovation performance; and (3) a firm's organizational structure positively moderates the relationship between environmental leadership and proactive environmental strategies. Therefore, the results of our study provide theoretical and practical contributions for research on environmental leadership and proactive environmental strategies.

5.
J Wound Care ; 32(Sup6a): lxxxvii-xcvi, 2023 Jun 01.
Article in English | MEDLINE | ID: mdl-37306381

ABSTRACT

CONCLUSION: Upon wound formation, the wound temperature rises in the first 3-4 days until reaching its peak. It then falls at about one week after wound formation. In the second week after wound formation, the wound temperature decreases steadily to the baseline indicating a good wound condition and progression towards healing. While a continuous high temperature is often a sign of excessive inflammation or infection, which indicates urgent need of intervention and treatment.


Subject(s)
Inflammation , Wound Healing , Humans , Temperature
6.
PhytoKeys ; 219: 107-120, 2023.
Article in English | MEDLINE | ID: mdl-37252450

ABSTRACT

Paraphlomisyingdeensis (Lamiaceae), a new species from the limestone area in northern Guangdong Province, China, is described and illustrated. Phylogenetic analyses, based on two nuclear DNA regions (ITS and ETS) and three plastid DNA regions (rpl32-trnL, rps16 and trnL-trnF), suggest that P.yingdeensis represents a distinct species in Paraphlomis. Morphologically, P.yingdeensis is similar to P.foliatasubsp.montigena and P.nana, but can be distinguished from the former by its densely villous lamina and calyx, not decurrent base of lamina and bristle-like-acuminate apex of calyx teeth, and distinguished from the latter by its significantly taller plant (15-20 cm vs. 1-5 cm) and larger lamina (6.2-16.5 × 4-11.5 vs. 2-7 × 1.5-4 cm), densely villous stem, lamina and calyx and yellow corolla.

7.
Adv Biol (Weinh) ; 7(8): e2300061, 2023 08.
Article in English | MEDLINE | ID: mdl-37083215

ABSTRACT

Nonsyndromic monogenic obesity (NSMO) is a class of individual obesity that is independent of the environment and caused by a single gene mutation. It is mostly caused by mutations in LEP, LEPR, PCSK1, as well as some rare mutations in UCP3, NR0B2, and PPARG. Among 30 obesity patients, five patients are identified with positive gene detection. For the first time, the c.624C>T mutation associated with PCSK1, and the c.50G>A and c.293_301delinsAC mutations associated with NR0B2, as well as the obesity phenotype mutation (c.284A>G) associated with PPARG is confirmed. Following this, the genotype-clinical phenotype, mutation hotspots, and mutation distributions of each gene are summarized, and the genetic characteristics of NSMO are analyzed. The locations of mutation c.50G>A, and c.284A>G are highly conserved according to the sequencing alignment. According to the findings, the c.624C>T mutation in PCSK1 is a newly discovered synonymous mutation, but it can result in significant early-onset obesity. Additionally, the mutation of c.284A>G(PPARG) can lead to a variety of clinical phenotypes and the mutation of UCP3 and NR0B2 may increase the risk of type 2 diabetes mellitus. This study enriches the human NSMO gene mutation database and provides a scientific basis for clinically accurate diagnosis and treatment.


Subject(s)
Diabetes Mellitus, Type 2 , Humans , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/genetics , PPAR gamma/genetics , Obesity/genetics , Mutation , Phenotype
8.
J Plast Reconstr Aesthet Surg ; 80: 28-35, 2023 05.
Article in English | MEDLINE | ID: mdl-36989880

ABSTRACT

BACKGROUND: Vaginal tightening or vaginoplasty has been gaining popularity, while validated methods of evaluation and treatment are still lacking. Herein, we describe a bilateral wall tightening technique for vaginal laxity and evaluate the feasibility of this method. METHODS: From April 2020 to September 2021, 25 women with vaginal laxity underwent vaginal tightening, and 22 women were included in this retrospective observational study. The inclusion criteria were as follows: participants with at least one delivery and reported vaginal laxity, but without a history of underlying diseases. Vaginal pressure tests and questionnaires were used to evaluate vaginal laxity and sexual quality before and 6 months after the surgery. RESULTS: The study included 22 women (aged 29-46 years), and the follow-up period was 14.1 ± 3.3 months. The score based on the vaginal laxity questionnaire was improved as a result of surgery (preoperative median: 2.00, interquartile range [IQR]: 1.00-2.00; postoperative median: 5.00, IQR: 5.00-6.25, p < 0.001). The vaginal pressure increased from 2.3 ± 1.8 mm/Hg to 21.4 ± 3.7 mm/Hg. Sexual distress changed from 24.2 ± 8.9-16.1 ± 4.8 after surgery (p < 0.001), and sexual dysfunction with an average score of 20.1 ± 10.6 before surgery improved after the procedure (26.0 ± 10.8, p < 0.001). Women also reported improved scores in desire, arousal, orgasm, and satisfaction. In addition, there were no intraoperative complications or significant events during the follow-up period. CONCLUSIONS: Bilateral vaginal tightening without mucosal excision is a feasible and effective surgical approach for the management of vaginal laxity.


Subject(s)
Mercury , Radiofrequency Therapy , Sexual Dysfunction, Physiological , Female , Humans , Vagina/surgery , Sexual Behavior , Sexual Dysfunction, Physiological/etiology , Sexual Dysfunction, Physiological/surgery , Surveys and Questionnaires
9.
PhytoKeys ; 218: 117-126, 2023.
Article in English | MEDLINE | ID: mdl-36762279

ABSTRACT

Commelinadanxiaensis (Commelinaceae), a remarkable new species from Mount Danxia, Guangdong Province, China, is described and illustrated. This species is similar to C.communis in inflorescences and flowers but readily distinguishable in its nearly erect stems, larger flowers, and different petal colouration.

10.
Article in English | MEDLINE | ID: mdl-36634979

ABSTRACT

INTRODUCTION: Mutations of CEL gene were first reported to cause a new type of maturity-onset diabetes of the young (MODY) denoted as MODY8 and then were also found in patients with type 1 (T1D) and type 2 diabetes (T2D). However, its genotype-phenotype relationship has not been fully determined and how carboxyl ester lipase (CEL) variants result in diabetes remains unclear. The aim of our study was to identify pathogenic variants of CEL in patients with diabetes and confirm their pathogenicity. RESEARCH DESIGN AND METHODS: All five patients enrolled in our study were admitted to Shandong Provincial Hospital and diagnosed with diabetes in the past year. Whole-exome sequencing was performed to identify pathogenic variants in three patients with MODY-like diabetes, one newborn baby with T1D and one patient with atypical T2D, as well as their immediate family members. Then the consequences of the identified variants were predicted by bioinformatic analysis. Furthermore, pathogenic effects of two novel CEL variants were evaluated in HEK293 cells transfected with wild-type and mutant plasmids. Finally, we summarized all CEL gene variants recorded in Human Gene Mutation Database and analyzed the mutation distribution of CEL. RESULTS: Five novel heterozygous variants were identified in CEL gene and they were predicted to be pathogenic by bioinformatic analysis. Moreover, in vitro studies indicated that the expression of CELR540C was remarkably increased, while p.G729_T739del variant did not significantly affect the expression of CEL. Both novel variants obviously abrogated the secretion of CEL. Furthermore, we summarized all reported CEL variants and found that 74.3% of missense mutations were located in exons 1, 3, 4, 10 and 11 and most missense variants clustered near catalytic triad, Arg-83 and Arg-443. CONCLUSION: Our study identified five novel CEL variants in patients with different subtypes of diabetes, expanding the gene mutation spectrum of CEL and confirmed the pathogenicity of several novel variants.


Subject(s)
Diabetes Mellitus, Type 1 , Diabetes Mellitus, Type 2 , Infant, Newborn , Humans , Diabetes Mellitus, Type 2/diagnosis , Carboxylesterase/genetics , Carboxylesterase/metabolism , HEK293 Cells , Lipase/genetics , Lipase/metabolism , Esters
11.
J Cosmet Dermatol ; 22(3): 822-830, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36374742

ABSTRACT

BACKGROUND: Combinational therapy such as taking tranexamic acid while using laser treatment has been proved potential efficacy by many experiments. However, there is few research which contains large samples and consistent observations. OBJECTIVE: We evaluated clinical efficacy and safety of a new systemic treatment of drug-laser-photon therapy. METHODS: Retrospective and randomized investigator-blinded study of 75 patients with mixed type melasma was analyzed. At each visit, standardized photographs were taken using VISIA. Modified melasma area and severity index (mMASI) scores were marked using photographs by two dermatologists. RESULTS: The mMASI score decreased significantly from 6.92 to 3.84 after the treatment. The VISIA analyze right cheek data shows: Spots (from 49.67 ± 3.43 to 56.09 ± 3.31), UV spots (from 41.39 ± 24.45 to 44.56 ± 25.86), and Brown spots (from 23.97 ± 17.89 to 28.16 ± 21.28) are statistically increased (p = 0.035, p = 0.018, p = 0.07). All patients feel varying degrees of improvement, about 10.17% felt very much improved, 30.51% felt much improved (51%-75%), 45.76% felt moderately improved (26%-50%), and 13.56% felt little improved (1%-25%). LIMITATIONS: This study was no control group. CONCLUSION: The efficacy and safety profile of the combination of drug-laser-photon therapy systemic treatment in melasma patients has been proved. It has potential possibility to become a new, reliable, widely suitable therapy strategy.


Subject(s)
Laser Therapy , Lasers, Solid-State , Melanosis , Humans , Lasers, Solid-State/therapeutic use , Melanosis/therapy , Retrospective Studies , Treatment Outcome
12.
BMC Ecol Evol ; 22(1): 145, 2022 12 15.
Article in English | MEDLINE | ID: mdl-36522642

ABSTRACT

BACKGROUND: The relict genus Rehderodendron (Styracaceae), the species of which are restricted to mostly warm temperate to tropical climate in East Asia today, is known from fossil fruits and pollen in Europe during warmer periods from the lower Eocene to Pliocene. To infer which extant species are most closely related to the fossils, new data of pollen and fruit morphologiesy of six extant species, and additional new data of fossil pollen and previously described fossil fruits of Rehderodendron, are compared. RESULTS: Both fossil pollen and fruits resemble a morphological mixture of the extant species R. indochinense, R. kwantungense, R. macrocarpum, and R. microcarpum, thus implying that these extant taxa and the fossil European taxa represent an old Eurasian lineage, whereas the pollen and fruit morphology of the extant R. kweichowense and R. truongsonense differ considerably from the fossils and other extant species investigated, and are considered to have evolved independently. CONCLUSIONS: The palaeobiogeographical history of Rehderodendron reveals that its fossil members of the European lineage were most prominent during climatic optima such as the Palaeocene-Eocene Thermal Maximum (PETM), Early Eocene Climate Optimum (EECO) and Middle Miocene Thermal Maximum (MMTM). However, when during the Pliocene the climate changed to colder and less humid conditions, the genus went extinct in Europe but migrated eastwards, most likely in two dispersal events along the Tethys Sea prior to extinction. One of the former most westerly stepping stones is suggested by the refugial occurrence of R. microcarpum in the southeastern Himalaya, whereas R. macrocarpum and R. kwangtungense, the taxa distributed more to the east, might have migrated eastwards already before the Miocene.


Subject(s)
Fossils , Styracaceae , Fruit/anatomy & histology , Phylogeny , Pollen/anatomy & histology
13.
Front Surg ; 9: 984732, 2022.
Article in English | MEDLINE | ID: mdl-36338641

ABSTRACT

Capsular contracture is one of the most common complications of breast implants, which often leads to secondary surgery. Patients with unconspicuous breast contracture do not need treatment, while for those with severe symptoms, a capsule revision surgery is of great necessity, including a total periprosthetic capsulectomy and replacement with a new implant. However, if the capsular contracture happens in the submuscular space, it will be very difficult to release it completely, and it may lead to more complications such as damage to surrounding tissue. The new method of pouch can create a new subpectoral plane for the insertion of a new implant instead of a total capsulectomy, but this method is unsuitable for patients who have little breast tissue or thin skin. To solve this thorny clinical problem, we invented a double-headed separating instrument and came up with a novel operation method to release the capsular contracture, which opened from the nipple by the punctiform-incision approach and caused only a mild and undetectable trauma. This operation went off without a hitch, and the postoperative breast shape was good, and the breast felt and moved naturally. In addition, there were no significant complications throughout the one-year follow-up period. This case was an excellent demonstration of the novel breast capsular contracture release surgery using our optimized double-headed capsule contracture separator.

14.
Yi Chuan ; 44(10): 937-949, 2022 Oct 20.
Article in English | MEDLINE | ID: mdl-36384729

ABSTRACT

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare endocrine disease characterized by gonadal dysplasia. According to whether the sense of smell is affected, this disorder is classified into Kallmann syndrome (KS) and normosmic isolated hypogonadotropic hypogonadism (nIHH). In this study, we reported a case of nIHH patient and explored the pathogenic mechanism of FGFR1 in nIHH. A FGFR1 variant (c.2008G>A, p.E670K) and a CEP290 variant (c.964G>A, p.D322N) were detected by the whole exome sequencing in this nIHH patient. Bioinformatic analysis revealed that this FGFR1 variant (c.2008G>A) causes structural perturbations in TK2 domain demonstrating that this variant result in FGFR1 loss-of-function and abnormal signaling. The identification of an additional CEP290 variant (c.964G>A) indicated that CEP290 might play a potential role in developmental abnormalities and inhibition of GnRH neuron release. A protein interaction network analysis showed that CEP290 was predicted to interact with FGFR1. In summary, our study identified the potential pathogenic mechanism(s) of the novel FGFR1 variant and indicated that CEP290 might play a role in the GnRH neuron migration route. Our findings expand the mutation spectrum of FGFR1 and CEP290 and provide a reference for clinical diagnosis and treatment of IHH.


Subject(s)
Hypogonadism , Kallmann Syndrome , Humans , Hypogonadism/genetics , Hypogonadism/diagnosis , Kallmann Syndrome/genetics , Mutation , Gonadotropin-Releasing Hormone/genetics , Receptor, Fibroblast Growth Factor, Type 1/genetics , Antigens, Neoplasm , Cytoskeletal Proteins/genetics , Cell Cycle Proteins/genetics
15.
Front Endocrinol (Lausanne) ; 13: 874608, 2022.
Article in English | MEDLINE | ID: mdl-35923617

ABSTRACT

Background: Type I hyperlipoproteinemia, characterized by severe hypertriglyceridemia, is caused mainly by loss-of-function mutation of the lipoprotein lipase (LPL) gene. To date, more than 200 mutations in the LPL gene have been reported, while only a limited number of mutations have been evaluated for pathogenesis. Objective: This study aims to explore the molecular mechanisms underlying lipoprotein lipase deficiency in two pedigrees with type 1 hyperlipoproteinemia. Methods: We conducted a systematic clinical and genetic analysis of two pedigrees with type 1 hyperlipoproteinemia. Postheparin plasma of all the members was used for the LPL activity analysis. In vitro studies were performed in HEK-293T cells that were transiently transfected with wild-type or variant LPL plasmids. Furthermore, the production and activity of LPL were analyzed in cell lysates or culture medium. Results: Proband 1 developed acute pancreatitis in youth, and her serum triglycerides (TGs) continued to be at an ultrahigh level, despite the application of various lipid-lowering drugs. Proband 2 was diagnosed with type 1 hyperlipoproteinemia at 9 months of age, and his serum TG levels were mildly elevated with treatment. Two novel compound heterozygous variants of LPL (c.3G>C, p. M1? and c.835_836delCT, p. L279Vfs*3, c.188C>T, p. Ser63Phe and c.662T>C, p. Ile221Thr) were identified in the two probands. The postheparin LPL activity of probands 1 and 2 showed decreases of 72.22 ± 9.46% (p<0.01) and 54.60 ± 9.03% (p<0.01), respectively, compared with the control. In vitro studies showed a substantial reduction in the expression or enzyme activity of LPL in the LPL variants. Conclusions: Two novel compound heterozygous variants of LPL induced defects in the expression and function of LPL and caused type I hyperlipoproteinemia. The functional characterization of these variants was in keeping with the postulated LPL mutant activity.


Subject(s)
Hyperlipoproteinemia Type I , Pancreatitis , Acute Disease , Adolescent , Female , Humans , Hyperlipoproteinemia Type I/drug therapy , Hyperlipoproteinemia Type I/genetics , Lipoprotein Lipase/genetics , Lipoprotein Lipase/metabolism , Pancreatitis/genetics , Pedigree
16.
Sci Rep ; 12(1): 14327, 2022 08 22.
Article in English | MEDLINE | ID: mdl-35995975

ABSTRACT

The role of angiotensin receptor blocker in wound healing and cutaneous fibrosis has become a hotspot in recent years. We have developed a losartan cream that is comparable to triamcinolone ointment in inhibiting scarring. Considering the effects of chitosan and asiaticoside on wound healing and scarring, we added them to the losartan cream this time and improved the formula, expecting to get a better anti-scarring effect. The effects of creams were investigated on mouse scar model with triamcinolone ointment, onion extract gel, and commercial asiaticoside cream set as positive controls. A preliminary exploration of the mechanism involved in TGF-ß/Smad pathway was performed in vivo and in vitro. With all results of anti-scarring, the compound losartan cream (containing chitosan, asiaticoside, and losartan) shows the best effect, followed by the chitosan asiaticoside cream. The treatment of the compound losartan cream inhibited expression of TGF-ß1, collagen, and Smads, and decreased phosphorylation of Smad in vivo. These inhibitory effects were also confirmed in vitro. Our findings indicated that the compound losartan cream could inhibit scarring via TGF-ß/Smad pathway. This cream might be an effective option for scar treatment.


Subject(s)
Cicatrix , Losartan , Animals , Chitosan/pharmacology , Cicatrix/drug therapy , Cicatrix/pathology , Losartan/pharmacology , Mice , Ointments/pharmacology , Signal Transduction , Smad Proteins/metabolism , Transforming Growth Factor beta1/metabolism , Triamcinolone
17.
Oxid Med Cell Longev ; 2022: 8956636, 2022.
Article in English | MEDLINE | ID: mdl-35832491

ABSTRACT

Mutations of filamin B (FLNB) gene can lead to a spectrum of autosomal skeletal malformations including spondylocarpotarsal syndrome (SCT), Larsen syndrome (LRS), type I atelosteogenesis (AO1), type III atelosteogenesis (AO3), and boomerang dysplasia (BD). Among them, LRS is milder while BD causes a more severe phenotype. However, the molecular mechanism underlying the differences in clinical phenotypes of different FLNB variants has not been fully determined. Here, we presented two patients suffering from autosomal dominant LRS and autosomal recessive vitamin D-dependent rickets type IA (VDDR-IA). Whole-exome sequencing revealed two novel missense variants in FLNB, c.4846A>G (p.T1616A) and c.7022T>G (p.I2341R), which are located in repeat 15 and 22 of filamin B, respectively. The expression of FLNBI2341R in the muscle tissue from our LRS patient was remarkably increased. And in vitro studies showed that both variants led to a lack of filopodia and accumulation of the mutants in the perinuclear region in HEK293 cells. We also found that c.4846A>G (p.T1616A) and c.7022T>G (p.I2341R) regulated endochondral osteogenesis in different ways. c.4846A>G (p.T1616A) activated AKT pathways through inhibiting SHIP2, suppressed the Smad3 pathway, and impaired the expression of Runx2 in both Saos-2 and ATDC5 cells. c.7022T>G (p.I2341R) activated both AKT and Smad3 pathways and increased the expression of Runx2 in Saos-2 cells, while in ATDC5 cells it activated AKT pathways through inhibiting SHIP2, suppressed the Smad3 pathway, and reduced the expression of Runx2. Our study demonstrated the pathogenic mechanisms of two novel FLNB variants in two different clinical settings and proved that FLNB variants could not only directly cause skeletal malformations but also worsen skeletal symptoms in the setting of other skeletal diseases. Besides, FLNB variants differentially affect skeletal development which contributes to clinical heterogeneity of FLNB-related disorders.


Subject(s)
Core Binding Factor Alpha 1 Subunit , Filamins , Osteochondrodysplasias , Core Binding Factor Alpha 1 Subunit/metabolism , Dwarfism/metabolism , Facies , Filamins/genetics , Filamins/metabolism , HEK293 Cells , Humans , Osteochondrodysplasias/genetics , Osteochondrodysplasias/metabolism , Osteochondrodysplasias/pathology , Proto-Oncogene Proteins c-akt/metabolism
18.
PhytoKeys ; 214: 75-82, 2022.
Article in English | MEDLINE | ID: mdl-36760553

ABSTRACT

Argostemmaehuangzhangense, a new Rubiaceae species from E'huangzhang Nature Reserve, Guangdong Province, China, is here described and illustrated. A morphological comparison between the new species and its putative relatives, A.lamxayanum, A.laotica and A.verticillatum, is presented. The new species is mostly similar to A.laotica, but they can be distinguished from each other since Argostemmaehuangzhangense presents solitary flower (vs. 2-flowered inflorescences), flower lobes 4 (vs. 5) and anthers opening by longitudinal slits (vs. apical pores). In a preliminary IUCN Red List status of Argostemmaehuangzhangense this species is assigned as Vulnerable (VU).

19.
PhytoKeys ; 204: 1-8, 2022.
Article in English | MEDLINE | ID: mdl-36760611

ABSTRACT

Paraphlomisjinggangshanensis (Lamiaceae), a new species from Jiangxi Province, China, is described and illustrated. The new species is morphologically similar to P.intermedia, but can be easily distinguished from the latter by its cordate leaf base (vs. cuneate, decurrent), stem and calyx tube with glandular hairs (vs. short pubescent), and glabrous anthers (vs. ciliate anthers). A phylogenetic analysis, based on ITS regions, suggests that P.jinggangshanensis represents a separate branch in Paraphlomis and is closely related to Clade II. It is currently known only from Jinggangshan National Natural Reserve. Because of its limited distribution and small population size, the species was assessed as Near Threatened (NT) according to the IUCN Red List Categories and Criteria.

20.
PhytoKeys ; 185: 43-53, 2021.
Article in English | MEDLINE | ID: mdl-34819780

ABSTRACT

Lespedezadanxiaensis (Fabaceae), a new species from Danxiashan National Nature Reserve in Guangdong Province, is described and illustrated. The new species is morphologically similar to Lespedezapilosa, but it can be easily distinguished by its thin leathery leaflets and long peduncles. Phylogenetic analysis based on ITS confirmed that the new species belongs to Lespedezasubg.Macrolespedeza. The new species is the first known species of Lespedeza endemic to Danxia landform and is currently only known from Mount Danxia, Guangdong.

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