Results 211 to 220 of about 722,974 (305)

Correction to: Polymorphisms of mtDNA in the D-loop region moderate the associations of BMI with HOMA-IR and HOMA-β among women with polycystic ovary syndrome: a cross-sectional study. [PDF]

J Assist Reprod Genet, 2023
He S, Ji D, Liu Y, Deng X, Zou W, Liang D, Du Y, Zong K, Jiang T, Li M, Zhang D, Yue X, Tao F, Cao Y, Liang C.   +14 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

The origins of "Kaunayen" game fowls of Manipur, India: Insights from mitochondrial D-loop sequence analysis. [PDF]

Poult Sci
Mutum RS, Das A, Ghosh SK, Wangkheimayum VD.   +3 more
europepmc   +1 more source

The Non-Invasive Assessment of Circulating D-Loop and mt-ccf Levels Opens an Intriguing Spyhole into Novel Approaches for the Tricky Diagnosis of NASH. [PDF]

Int J Mol Sci, 2023
Paolini E, Longo M, Corsini A, Dongiovanni P.   +3 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

D-Loop Mutations as Prognostic Markers in Glioblastoma-A Pilot Study. [PDF]

Int J Mol Sci
Szmyd B, Stanisławska P, Podstawka M, Zaczkowski K, Izbiński PM, Kulczycka-Wojdala D, Stawski R, Wiśniewski K, Janczar K, Braun M, Białasiewicz P, Jaskólski DJ, Bobeff EJ.   +12 more
europepmc   +1 more source

A Synthetic Small RNA Homologous to the D-Loop Transcript of mtDNA Enhances Mitochondrial Bioenergetics. [PDF]

Front Physiol, 2022
Mathuram TL, Townsend DM, Lynch VJ, Bederman I, Ye ZW, Zhang J, Sigurdson WJ, Prendergast E, Jobava R, Ferruzza JP, D'Angelo MR, Hatzoglou M, Perry Y, Blumental-Perry A.   +13 more
europepmc   +1 more source

Paramagnetic Rim Lesions Are Associated With Trans‐Synaptic Degeneration of the Visual Pathway in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem, Angel Liu, Sargis Manukyan, Mustafa Subhi, Elaina Luskin, Bryan Quah, Sreekanth Madhusoodhanan Nair, Arzu C. Has Silemek, Gabriela Zabala, Yujie Cui, Laura Locke, Paula Barreras, Marwa Kaisey, Vinicius Calsavara, Daniel S. Reich, Nancy L. Sicotte, Pascal Sati, Omar Al‐Louzi   +17 more
wiley   +1 more source

Identification of sequence polymorphism in the D-loop region of mitochondrial DNA as a risk factor for breast cancer. [PDF]

Cancer Sci
Nie Q, Zhang W, Lin S, Huang M, Li Y, Qiu Y, Li J, Chen X, Wang Y, Tong X, Wu J, He P, Cai Q, Chen L, Chen M, Guo W, Lin Y, Yu L, Hou J, Cai W, Chen H, Wang C, Fu F.   +22 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source