Results 201 to 210 of about 770,834 (300)

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Hydroxyapatite-Based 3D Tooth Models for Investigating Spatially Resolved Analysis of Biofilm Formation Dynamics. [PDF]

ACS Appl Bio Mater
Nag P, Kim H, Yoon I, Adu E, Ong R, Park R, Lee A, Jalali M, Almutairi FT, Blatz MB, Yun K, Choi SH, Kim A, Hwang G.   +13 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Association of Phenylthiocarbamide Taste Sensitivity with Dental Caries, Skeletal Maturity, and Body Mass Index Percentiles in Children Aged 8-12 Years: A Cross-sectional Study. [PDF]

Int J Clin Pediatr Dent
Dixit A, Saxena A, Verma N, Khandelwal V.   +3 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Community Participation and the Making of Brazil's National Oral Health Policy. [PDF]

Int Dent J
Narvai PC, Peres MA.
europepmc   +1 more source

SDPR–STK38 axis controls the proliferation–differentiation balance in alveolar type II cells

Animal Models and Experimental Medicine, EarlyView.
The present study identifies SDPR as a pivotal regulator orchestrating the balance between proliferation and differentiation in alveolar type II (AT2) cells. In SDPR+/+ cells, SDPR binds to and inhibits STK38 activity, thereby sustaining GSK‐3β signaling functionality to promote cyclin D1 degradation and maintain cell cycle homeostasis.
Jie Wang, Xuepei Lei, Yiying Huang, Jiaming Tang, Guiying Shi, Hang Li, Lin Bai   +6 more
wiley   +1 more source

Antimicrobial efficacy of herbal and silver nanoparticles based root canal irrigants. [PDF]

Bioinformation
Shahnawaz K, Anamika A, Sagar S, Alam S, Alok A.   +4 more
europepmc   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

Animal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li, Yanming Chen, Xinyi Xiao, Guoheng Xu   +3 more
wiley   +1 more source

Dry Ice in Decoverslipping Microscopic Slides: A Novel Approach. [PDF]

Cureus
Pinisetti S, Dasarathi A, Jyothsna M, Shaik H, Jini J, Iqbal R.   +5 more
europepmc   +1 more source