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Auditory impairment in H-ABC tubulinopathy.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a neurodegenerative disease due to mutations in TUBB4A. Patients suffer from extrapyramidal movements, spasticity, ataxia, and cognitive deficits. Magnetic resonance imaging features are hypomyelination and atrophy of the striatum and cerebellum. A correlation between the mutations and their cellular, tissue and organic ef…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Atypical processing of tones and phonemes in Rett Syndrome as biomarkers of disease progression.
Due to severe motor impairments and the lack of expressive language abilities seen in most patients with Rett Syndrome (RTT), it has proven extremely difficult to obtain accurate measures of auditory processing capabilities in this population. Here, we examined early auditory cortical processing of pure tones and more complex phonemes in females with Rett Syndrome (RTT), by recording high-density …
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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The group B streptococcal serine-rich repeat 1 glycoprotein mediates penetration of the blood-brain barrier.
Group B Streptococcus (GBS) is the leading cause of bacterial meningitis in newborn infants. Because GBS is able to invade, survive, and cross the blood-brain barrier, we sought to identify surface-expressed virulence factors that contribute to blood-brain barrier penetration and the pathogenesis of meningitis. Targeted deletion and insertional mutants were generated in different GBS clinical isol…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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The therapeutic potential of neuronal KCNQ channel modulators.
Neuronal KCNQ (Kv7) channels (KCNQ2-5 or Kv7.2-7.5, disclosed to date) were discovered by virtue of their homology with a known cardiac channel involved in long QT syndrome (KvLQT or KCNQ1, Kv7.1) and first disclosed in 1998. The involvement of KCNQ2 (Kv7.2) and KCNQ3 (Kv7.3) in a benign idiopathic neonatal epilepsy, KCNQ4 (Kv7.4) in a form of congenital deafness, and the discovery that neuronal K…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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12th International CHARGE syndrome conference proceedings.
The CHARGE Syndrome Foundation holds an International conference for families and professionals every other summer. In July, 2015, the 12th meeting was held in Schaumburg, Illinois, at the Renaissance Schaumburg Hotel. Day one of the 4-day conference was dedicated to professionals caring for and researching various aspects of CHARGE, including education, medical management, animal models, and stem…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
Dominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. Clinical follow-up of DDOD syndrome patients with cochlear implantation revealed the language rehabilitation was uns…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Hearing loss raises excitability in the auditory cortex.
Developmental hearing impairments compromise sound discrimination, speech acquisition, and cognitive function; however, the adjustments of functional properties in the primary auditory cortex (A1) remain unknown. We induced sensorineural hearing loss (SNHL) in developing gerbils and then reared the animals for several days. The intrinsic membrane and synaptic properties of layer 2/3 pyramidal neur…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Syngap1 haploinsufficiency damages a postnatal critical period of pyramidal cell structural maturation linked to cortical circuit assembly.
Genetic haploinsufficiency of SYNGAP1/Syngap1 commonly occurs in developmental brain disorders, such as intellectual disability, epilepsy, schizophrenia, and autism spectrum disorder. Thus, studying mouse models of Syngap1 haploinsufficiency may uncover pathologic developmental processes common among distinct brain disorders. A Syngap1 haploinsufficiency model was used to explore the relationship …
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy.
Noise-induced hearing loss (NIHL) is a common health concern with significant social, psychological, and cognitive implications. Moderate levels of acoustic overstimulation associated with tinnitus and impaired speech perception cause cochlear synaptopathy, characterized physiologically by reduction in wave I of the suprathreshold auditory brainstem response (ABR) and reduced number of synapses be…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」
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Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model d…
💬 論文と壁打ち β 残り 3 / 3 回 (今日)Abstract の内容だけを根拠に答えます。医療助言はしません。abstract に無い事実は「記載なし」と返します。質問例: 「要点を3つ教えて」「結論の限界は?」「N数と統計手法は?」「反論できる可能性は?」