Results 71 to 80 of about 3,021,505 (257)

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

open access: yesAmerican 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   +5 more
wiley   +1 more source

Association Between Sarcopenia and Tooth Loss

open access: yesAnnals of Geriatric Medicine and Research, 2018
Background: The aim of this study was to determine whether the prevalence and extent of periodontal disease and tooth loss are increased in participants with sarcopenia.
Chang Hoon Han, Jae Ho Chung
doaj   +1 more source

Lipoprotein Lipase-Enzyme level,Tooth Loss And Ischemic Stroke

open access: yes, 2007
The large nember of tooth loss meke LPL- Enzyme decrease in blood vessel this condition can cause ischemic stroke.If the comsumption of the food that consist of fat too much,thelevel of cholesterol in the blood will increase.
Rahmat, drg.Sp,Pros
core  

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell   +16 more
wiley   +1 more source

Cigarette smoking and tooth loss experience among young adults: a national record linkage study

open access: yesBMC Public Health, 2007
Background Various factors affect tooth loss in older age including cigarette smoking; however, evidence regarding the association between smoking and tooth loss during young adulthood is limited.
Tanaka Keiko   +3 more
doaj   +1 more source

Masticatory scores for Tooth Loss, Wearing Denture, and Young.

open access: yes, 2016
Masticatory scores for Tooth Loss, Wearing Denture, and Young.
Kazunobu Kamiya (642004)   +2 more
core   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri   +5 more
wiley   +1 more source

Tooth Loss and Nutritional Status in 120,994 Children Aged 6–9 Years in Mongolia: A Population-Based Study

open access: yesChildren
Background: Tooth loss in childhood reflects cumulative oral disease and may impair dietary intake, potentially influencing nutritional status. Evidence on the association between tooth loss and anthropometric indicators in school-aged children remains ...
Batbold Gan-Ochir   +10 more
doaj   +1 more source

Dose-response relationship between tooth loss and risk of stroke.

open access: yes, 2018
Dose-response relationship between tooth loss and risk of stroke.
Mi Zhang (42795)   +8 more
core   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa   +3 more
wiley   +1 more source

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