channelopathies/arginine

Холбоосыг санах ойд хадгалдаг

Эрэмбэлэх төрлийг сонгоно уу

Хуудас 1 -аас 16 үр дүн

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

OBJECTIVE The aim is to review the recent findings in relation to the genetics, pathophysiology, clinical phenotypes, investigation and treatment of the nondystrophic myotonias (NDMs) and periodic paralyses. RESULTS The number of pathogenic mutations causing NDMs and periodic paralyses in known

Voltage-sensor mutations in channelopathies of skeletal muscle.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Mutations of voltage-gated ion channels cause several channelopathies of skeletal muscle, which present clinically with myotonia, periodic paralysis, or a combination of both. Expression studies have revealed both loss-of-function and gain-of-function defects for the currents passed by mutant

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Gain-of-function mutations in Nav1.9 have been identified in three families with rare heritable pain disorders, and in patients with painful small-fibre neuropathy. Identification and functional assessment of new Nav1.9 mutations will help to elucidate the phenotypic spectrum of Nav1.9

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

OBJECTIVE To provide a current review of clinical phenotypes, genetics, molecular pathophysiology, and electro-diagnostic testing strategies of periodic paralysis and nondystrophic myotonias. RESULTS The number of pathogenic mutations causing periodic paralysis and nondystrophic myotonias continues

Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

The segment 4 (S4) voltage sensor in voltage-gated sodium channels (Na_vs) have domain-specific functions, and the S4 segment in domain DIV (DIVS4) plays a key role in the activation and fast inactivation processes through the coupling of arginine residues in DIVS4 with residues of

Gating pore current in an inherited ion channelopathy.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Ion channelopathies are inherited diseases in which alterations in control of ion conductance through the central pore of ion channels impair cell function, leading to periodic paralysis, cardiac arrhythmia, renal failure, epilepsy, migraine and ataxia. Here we show that, in contrast with this

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

We have recently performed exome analysis in a 7 year boy who presented in infancy with an encephalopathy characterized by ataxia and myoclonic epilepsy. Parents were not consanguineous and there was no family history of the disease. Exome analysis did not show any pathogenic variants in genes known

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Hundreds of genetic variants in SCN5A, the gene coding for the pore-forming subunit of the cardiac sodium channel, Na(v) 1.5, have been described in patients with cardiac channelopathies as well as in individuals from control cohorts. The aim of this study was to characterize the biophysical

Redesigning channel-forming peptides: amino acid substitutions that enhance rates of supramolecular self-assembly and raise ion transport activity.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Three series of 22-residue peptides derived from the transmembrane M2 segment of the glycine receptor alpha1-subunit (M2GlyR) have been designed, synthesized, and tested to determine the plasticity of a channel-forming sequence and to define whether channel pores with enhanced conductive properties

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

OBJECTIVE Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same mutation can exhibit considerable variability in the severity of ataxia, neuromyotonia, and other associated features. We investigated

Molecular biology and biophysical properties of ion channel gating pores.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

The voltage sensitive domain (VSD) is a pivotal structure of voltage-gated ion channels (VGICs) and plays an essential role in the generation of electrochemical signals by neurons, striated muscle cells, and endocrine cells. The VSD is not unique to VGICs. Recent studies have shown that a VSD

A Novel Kv7.3 Variant in the Voltage-Sensing S ₄ Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Pathogenic variants in KCNQ2 and KCNQ3, paralogous genes encoding Kv7.2 and Kv7.3 voltage-gated K⁺ channel subunits, are responsible for early-onset developmental/epileptic disorders characterized by heterogeneous clinical phenotypes ranging from benign familial neonatal

N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

CONCLUSIONS Paramyotonia congenita is a hereditary channelopathy caused by missense mutations in the SCN4A gene, which encodes the α subunit of the human skeletal muscle voltage-gated sodium channel NaV1.4. Affected individuals suffered from myotonia and paralysis of muscles, which were aggravated

Gating Pore Currents in Sodium Channels.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Voltage-gated sodium channels belong to the superfamily of voltage-gated cation channels. Their structure is based on domains comprising a voltage sensor domain (S1-S4 segments) and a pore domain (S5-S6 segments). Mutations in positively charged residues of the S4 segments may allow protons or

Analysis of Single-Nucleotide Polymorphisms in Human Voltage-Gated Ion Channels.

Зөвхөн бүртгэлтэй хэрэглэгчид л нийтлэл орчуулах боломжтой

Нэвтрэх / Бүртгүүлэх

Voltage-gated ion channels (VGICs) are one of the largest groups of transmembrane proteins. Due to their major role in the generation and propagation of electrical signals, VGICs are considered important from a medical viewpoint, and their dysfunction is often associated with Channelopathies. We

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Herbal & Natural Medicine

Шинжлэх ухаанаар баталгаажсан эмийн өвс ургамлын бүрэн мэдээллийн сан

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Шинжлэх ухааны үндэслэсэн ургамлын гаралтай эдгэрэлт
Ургамлыг дүрсээр таних
Интерактив GPS газрын зураг - эмийн ургамлыг байршлаар нь тэмдэглэнэ (удахгүй)
Хайлттай холбоотой шинжлэх ухааны нийтлэлүүдийг уншина уу
Эмийн өвсийг үр нөлөөгөөр нь хайж олох
Мэдээллийн судалгаа, клиник туршилт, патентыг цаг тухайд нь сонирхож, зохион байгуул

Шинж тэмдэг эсвэл өвчний талаар бичиж, тус болох ургамлын талаар уншиж, өвслөг ургамлыг бичиж, өвчний эсрэг шинж тэмдгийг үзээрэй.
* Бүх мэдээлэл нь хэвлэгдсэн эрдэм шинжилгээний судалгаанд үндэслэсэн болно

channelopathies/arginine

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis.

Voltage-sensor mutations in channelopathies of skeletal muscle.

Familial gain-of-function Nav1.9 mutation in a painful channelopathy.

Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.

Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Gating pore current in an inherited ion channelopathy.

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.

Redesigning channel-forming peptides: amino acid substitutions that enhance rates of supramolecular self-assembly and raise ion transport activity.

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Molecular biology and biophysical properties of ion channel gating pores.

A Novel Kv7.3 Variant in the Voltage-Sensing S 4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.

Gating Pore Currents in Sodium Channels.

Analysis of Single-Nucleotide Polymorphisms in Human Voltage-Gated Ion Channels.

Шинжлэх ухаанаар баталгаажсан эмийн өвс ургамлын бүрэн мэдээллийн сан

A Novel Kv7.3 Variant in the Voltage-Sensing S ₄ Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate