Results 31 to 40 of about 281 (94)

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, Volume 8, Issue 4, Page 1383-1404, December 2023., 2023
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu   +23 more
wiley   +1 more source

On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023
Abstract Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in ...
Barbara Plecko
wiley   +1 more source

Natural variation of HTH5 from wild rice, Oryza rufipogon Griff., is involved in conferring high‐temperature tolerance at the heading stage

Plant Biotechnology Journal, Volume 20, Issue 8, Page 1591-1605, August 2022., 2022
Summary Global warming is a major abiotic stress factor, which limit rice production. Exploiting the genetic basis of the natural variation in heat resistance at different reproductive stages among diverse exotic Oryza germplasms can help breeding heat‐resistant rice cultivars.
Zhibin Cao, Huiwu Tang, Yaohui Cai, Bohong Zeng, Jialiang Zhao, Xiuying Tang, Ming Lu, Huimin Wang, Xuejing Zhu, Xiaofeng Wu, Linfeng Yuan, Jianlin Wan   +11 more
wiley   +1 more source

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]

Genes (Basel)
Background: Pyridoxine-dependent epilepsy (PDE) is a rare disorder characterized by seizures resistant to conventional treatments but responsive to pyridoxine therapy.
Falsaperla R, Salvo E, Sapuppo A, Barberi C, Sortino V, Fusto G, Rizzo R, Pappalardo XG, Corsello G, Ruggieri M, Romano C, Saccuzzo L, Fichera M, Bonaglia MC.   +13 more
europepmc   +2 more sources

B vitamin supply in plants and humans: the importance of vitamer homeostasis

The Plant Journal, Volume 111, Issue 3, Page 662-682, August 2022., 2022
SUMMARY B vitamins are a group of water‐soluble micronutrients that are required in all life forms. With the lack of biosynthetic pathways, humans depend on dietary uptake of these compounds, either directly or indirectly, from plant sources. B vitamins are frequently given little consideration beyond their role as enzyme accessory factors and are ...
Zeguang Liu, Peter Farkas, Kai Wang, Morgan‐Océane Kohli, Teresa B. Fitzpatrick   +4 more
wiley   +1 more source

Integrated analysis of pivotal biomarker of LSM1, immune cell infiltration and therapeutic drugs in breast cancer

Journal of Cellular and Molecular Medicine, Volume 26, Issue 14, Page 4007-4020, July 2022., 2022
Abstract The discovery of early diagnosis and prognostic markers for breast cancer can significantly improve survival and reduce mortality. LSM1 is known to be involved in the general process of mRNA degradation in complexes containing LSm subunits, but the molecular and biological functions in breast cancer remain unclear. Here, the expression of LSM1
Yen‐Dun Tony Tzeng, Kuan‐Hao Tsui, Ling‐Ming Tseng, Ming‐Feng Hou, Pei‐Yi Chu, Jim Jinn‐Chyuan Sheu, Chia‐Jung Li   +6 more
wiley   +1 more source

Video_1_Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.MP4

, 2022
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi (13966119), François Dubeau (428654), Daniela Buhas (13966125), Myriam Srour (651830), Bradley Osterman (13966122), Nicolas Chrestian (8455269)   +5 more
core   +1 more source

Table_1_Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.docx

, 2022
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi (13966119), François Dubeau (428654), Daniela Buhas (13966125), Myriam Srour (651830), Bradley Osterman (13966122), Nicolas Chrestian (8455269)   +5 more
core   +1 more source

Investigation of Novel Genetic Causes of Early Infantile Epileptic Encephalopathies Using Next Generation Sequencing and Zebrafish and Cellular Modelling

, 2020
Early infantile epileptic encephalopathies are a set of diseases characterized by poorly controlled or refractory seizures, contributing to, or in concert with, changes in cerebral function and neurodevelopment.
Johnstone, Devon
core   +1 more source

Señalización mediada por PIPX en cianobacterias: componentes, interacciones, dianas y señales [PDF]

, 2021
PipX es una proteína única de cianobacterias identificada por su habilidad para interactuar de forma excluyente con PII y NtcA, dos reguladores clave implicados en la integración de señales de nitrógeno/carbono y energía, estableciendo un vínculo ...
Labella, Jose I.
core   +1 more source