BACKGROUND: This cross-sectional study investigated the relationship between genetic variations in monocarboxylate transporter genes and blood lactate production and removal after high-intensity efforts in humans. The study was conducted to explore how genetic variations in the MCT1, MCT2, and MCT4 genes influenced lactate dynamics and to advance the field of sports genetics by pinpointing critical genetic markers that can enhance athletic performance and recovery. METHODS: 337 male athletes from Poland and the Czech Republic underwent two intermittent all-out Wingate tests. Before the tests, DNA samples were taken from each participant, and SNP (single nucleotide polymorphism) analysis was carried out. Two intermittent all-out tests were implemented, and lactate concentrations were assessed before and after these tests. RESULTS: Sprinters more frequently exhibited the haplotype TAC in the MCT2 gene, which was associated with an increase in the difference between maximum lactate and final lactate concentration. Additionally, this haplotype was linked to higher maximum lactate concentration and was more frequently observed in sprinters. The genotypic interactions AG/T- and GGxT- (MCT1 rs3789592 x MCT4 rs11323780), TTxTT (MCT1 rs12028967 x MCT2 rs3763979), and MCT1 rs7556664 x MCT4 rs11323780 were all associated with an increase in the difference between maximum lactate concentration and final lactate concentration. Conversely, the AGxGG (MCT1 rs3789592 x MCT2 rs995343) interaction was linked to a decrease in this difference. The relationship between maximum lactate concentration and genotypic interactions can be observed as follows: when ATxTT (MCT2 rs3763980 x MCT4 rs11323780) or CTxCT (MCT1 rs10857983 x MCT2 rs3763979) genotypic combinations are present, it leads to a decrease in maximum lactate concentration. Similarly, the combination of CTxCT (MCT1 rs4301628 x MCT2 rs3763979), CT x TT (MCT1 rs4301628 x MCT4 rs11323780), and CTxTT (MCT1 rs4301628 x MCT2 rs3763979) results in decreased maximum lactate concentration. CONCLUSIONS: The TAC haplotype (rs3763980, rs995343, rs3763979) in the MCT2 gene is associated with altered lactate clearance in sprinters, potentially affecting performance and recovery by elevating post-exercise lactate concentrations. While MCT4 rs11323780 is also identified as a significant variant in lactate metabolism, suggesting its role as a biomarker for sprinting performance, further investigation is necessary to clarify underlying mechanisms and consider additional factors. Based on elite male athletes from Poland and the Czech Republic, the study may not generalize to all sprinters or diverse athletic populations. Although genetic variants show promise as biomarkers for sprinting success, athletic performance is influenced by a complex interplay of genetics, environment, and training extending beyond MCT genes.

• Klíčová slova
• Athletic training, Genetic predisposition, Genetic variants, Genotype, Haplotype, Lactate kinetics, Sprint,
• MeSH
• dospělí MeSH
• genotyp MeSH
• haplotypy * MeSH
• jednonukleotidový polymorfismus * MeSH
• kinetika MeSH
• kyselina mléčná * krev   metabolismus   MeSH
• lidé MeSH
• mladý dospělý MeSH
• přenašeče monokarboxylových kyselin * genetika   metabolismus   MeSH
• průřezové studie MeSH
• sportovci MeSH
• svalové proteiny * genetika   metabolismus   MeSH
• symportéry * genetika   metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• kyselina mléčná * MeSH
• monocarboxylate transport protein 1 MeSH Prohlížeč
• přenašeče monokarboxylových kyselin * MeSH
• SLC16A2 protein, human MeSH Prohlížeč
• SLC16A4 protein, human MeSH Prohlížeč
• svalové proteiny * MeSH
• symportéry * MeSH

BACKGROUND: Congenital myasthenic syndromes (CMSs) are characterized by hypotonia, episodic apnea, muscle weakness, ptosis and generalized fatigability. CMS type 20 (CMS20) is a rare disorder caused by variants in SLC5A7. In contrast to most other CMSs, CMS20 is also associated with neurodevelopmental disorders (NDDs). Only 19 patients from 14 families have been reported so far. METHODS: We studied a 12-year-old boy with symptoms manifested at six weeks of age. Later, he also showed speech delay, moderate intellectual disability and autism. Analysis of CMS genes known at the time of clinical diagnosis yielded no results. Trio exome sequencing (ES) was performed. RESULTS: ES revealed compound heterozygosity for two SLC5A7 variants, p.(Asn431Lys) and p.(Ile291Thr). While the first variant was absent from all databases, the second variant has already been described in one patient. In silico analysis of known pathogenic SLC5A7 variants showed that variants with a higher predicted deleteriousness may be associated with earlier onset and increased severity of neuromuscular manifestations. CONCLUSION: Our patient confirms that CMS20 can be associated with NDDs. The study illustrates the strength of ES in deciphering the genetic basis of rare diseases, contributes to characterization of CMS20 and suggests trends in genotype-phenotype correlation in CMS20.

• Klíčová slova
• SLC5A7, congenital myasthenic syndrome type 20, exome sequencing, neurodevelopmental disorders,
• MeSH
• genetické asociační studie MeSH
• heterozygot MeSH
• kongenitální myastenické syndromy * genetika   diagnóza   MeSH
• lidé MeSH
• mentální retardace * komplikace   MeSH
• missense mutace MeSH
• symportéry * genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• SLC5A7 protein, human MeSH Prohlížeč
• symportéry * MeSH

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who were of normal bodyweight at this age (HR 4·71, 95% CI 1·26-17·58, p=0·021). The few motor and cognitive abilities of patients did not improve with age, as evidenced by the absence of significant correlations between biological age and scores on the Gross Motor Function Measure-88 and Bayley Scales of Infant Development III. Tri-iodothyronine concentrations were above the age-specific upper limit in 96 (95%) of 101 patients and free thyroxine concentrations were below the age-specific lower limit in 94 (89%) of 106 patients. 59 (71%) of 83 patients were underweight. 25 (53%) of 47 patients had elevated systolic blood pressure above the 90th percentile, 34 (76%) of 45 patients had premature atrial contractions, and 20 (31%) of 64 had resting tachycardia. The most consistent MRI finding was a global delay in myelination, which occurred in 13 (100%) of 13 patients. INTERPRETATION: Our description of characteristics of MCT8 deficiency in a large patient cohort reveals poor survival with a high prevalence of treatable underlying risk factors, and provides knowledge that might inform clinical management and future evaluation of therapies. FUNDING: Netherlands Organisation for Health Research and Development, and the Sherman Foundation.

• MeSH
• biologické markery analýza   MeSH
• dítě MeSH
• dospělí MeSH
• duševní poruchy etiologie   patologie   MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mezinárodní agentury MeSH
• míra přežití MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• následné studie MeSH
• nemoci svalů etiologie   patologie   MeSH
• neurovývojové poruchy etiologie   patologie   MeSH
• předškolní dítě MeSH
• přenašeče monokarboxylových kyselin nedostatek   genetika   MeSH
• prognóza MeSH
• retrospektivní studie MeSH
• senioři MeSH
• symportéry nedostatek   genetika   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Názvy látek
• biologické markery MeSH
• přenašeče monokarboxylových kyselin MeSH
• SLC16A2 protein, human MeSH Prohlížeč
• symportéry MeSH

Genomics methodologies have significantly improved elucidation of Mendelian disorders. The combination with high-throughput functional-omics technologies potentiates the identification and confirmation of causative genetic variants, especially in singleton families of recessive inheritance. In a cohort of 99 individuals with abnormal Golgi glycosylation, 47 of which being unsolved, glycomics profiling was performed of total plasma glycoproteins. Combination with whole-exome sequencing in 31 cases revealed a known genetic defect in 15 individuals. To identify additional genetic factors, hierarchical clustering of the plasma glycomics data was done, which indicated a subgroup of four patients that shared a unique glycomics signature of hybrid type N-glycans. In two siblings, compound heterozygous mutations were found in SLC10A7, a gene of unknown function in human. These included a missense mutation that disrupted transmembrane domain 4 and a mutation in a splice acceptor site resulting in skipping of exon 9. The two other individuals showed a complete loss of SLC10A7 mRNA. The patients' phenotype consisted of amelogenesis imperfecta, skeletal dysplasia, and decreased bone mineral density compatible with osteoporosis. The patients' phenotype was mirrored in SLC10A7 deficient zebrafish. Furthermore, alizarin red staining of calcium deposits in zebrafish morphants showed a strong reduction in bone mineralization. Cell biology studies in fibroblasts of affected individuals showed intracellular mislocalization of glycoproteins and a defect in post-Golgi transport of glycoproteins to the cell membrane. In contrast to yeast, human SLC10A7 localized to the Golgi. Our combined data indicate an important role for SLC10A7 in bone mineralization and transport of glycoproteins to the extracellular matrix.

• MeSH
• dánio pruhované genetika   růst a vývoj   metabolismus   MeSH
• dospělí MeSH
• exom MeSH
• fenotyp MeSH
• fibroblasty metabolismus   patologie   MeSH
• fyziologická kalcifikace * MeSH
• genomika * MeSH
• glykomika * MeSH
• glykopeptidasa nedostatek   MeSH
• glykosylace MeSH
• Golgiho aparát metabolismus   patologie   MeSH
• kohortové studie MeSH
• kojenec MeSH
• kultivované buňky MeSH
• lidé MeSH
• mladý dospělý MeSH
• mutace * MeSH
• přenašeče organických aniontů závislé na sodíku genetika   metabolismus   MeSH
• rodokmen MeSH
• symportéry genetika   metabolismus   MeSH
• transport proteinů MeSH
• vrozené poruchy glykosylace komplikace   MeSH
• vývojové onemocnění kostí etiologie   metabolismus   patologie   MeSH
• zvířata MeSH
• Check Tag
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• glykopeptidasa MeSH
• přenašeče organických aniontů závislé na sodíku MeSH
• Slc10a7 protein, human MeSH Prohlížeč
• symportéry MeSH

Dekkera bruxellensis is important for lambic beer fermentation but is considered a spoilage yeast in wine fermentation. We compared two D. bruxellensis strains isolated from wine and found that they differ in some basic properties, including osmotolerance. The genomes of both strains contain two highly similar copies of genes encoding putative glycerol-proton symporters from the STL family that are important for yeast osmotolerance. Cloning of the two DbSTL genes and their expression in suitable osmosensitive Saccharomyces cerevisiae mutants revealed that both identified genes encode functional glycerol uptake systems, but only DbStl2 has the capacity to improve the osmotolerance of S. cerevisiae cells.

• MeSH
• Dekkera genetika   izolace a purifikace   metabolismus   fyziologie   MeSH
• druhová specificita MeSH
• fungální proteiny genetika   metabolismus   MeSH
• genom bakteriální genetika   MeSH
• glycerol metabolismus   MeSH
• osmoregulace genetika   MeSH
• protony MeSH
• rekombinantní proteiny genetika   metabolismus   MeSH
• Saccharomyces cerevisiae genetika   MeSH
• symportéry genetika   metabolismus   MeSH
• testy genetické komplementace MeSH
• víno mikrobiologie   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Názvy látek
• fungální proteiny MeSH
• glycerol MeSH
• protony MeSH
• rekombinantní proteiny MeSH
• symportéry MeSH

We evaluate the mRNA expression of monocarboxylate transporters 1 and 4 (MCT1 and MCT4) in skeletal muscle (soleus, red and white gastrocnemius), heart and liver tissues in mice submitted to a single bout of swimming exercise at the maximal lactate steady state workload (MLSSw). After 72 h of MLSS test, the animals were submitted to a swimming exercise session for 25 min at individual MLSSw. Tissues and muscle samples were obtained at rest (control, n=5), immediately (n=5), 5 h (n=5) and 10 h (n=5) after exercise for determination of the MCT1 and MCT4 mRNA expression (RT-PCR). The MCT1 mRNA expression in liver increased after 10 h in relation to the control, immediate and 5 h groups, but the MCT4 remained unchanged. The MCT1 mRNA expression in heart increased by 31 % after 10 h when compared to immediate, but no differences were observed in relation to the control group. No significant differences were observed for red gastrocnemius in MCT1 and MCT4 mRNA expression. However, white gastrocnemius increased MCT1 mRNA expression immediately when compared to rest, 5 and 10 h test groups. In soleus muscle, the MCT1 mRNA expression increased immediately, 5 and 10 h after exercise when compared to the control. In relation to MCT4 mRNA expression, the soleus increased immediately and 10 h after acute exercise when compared to the control group. The soleus, liver and heart were the main tissues that showed improved the MCT1 mRNA expression, indicating its important role in controlling MLSS concentration in mice.

• MeSH
• anaerobní práh fyziologie   MeSH
• játra metabolismus   MeSH
• kondiční příprava zvířat metody   MeSH
• kosterní svaly fyziologie   MeSH
• mikro RNA metabolismus   MeSH
• myokard metabolismus   MeSH
• myši inbrední C57BL MeSH
• myši MeSH
• orgánová specificita MeSH
• plavání fyziologie   MeSH
• přenašeče monokarboxylových kyselin genetika   metabolismus   MeSH
• symportéry genetika   metabolismus   MeSH
• tělesná námaha fyziologie   MeSH
• tkáňová distribuce MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• mikro RNA MeSH
• monocarboxylate transport protein 1 MeSH Prohlížeč
• přenašeče monokarboxylových kyselin MeSH
• Slc16a7 protein, mouse MeSH Prohlížeč
• symportéry MeSH

The accumulation of glycerol is essential for yeast viability upon hyperosmotic stress. Here we show that the osmotolerant yeast Zygosaccharomyces rouxii has two genes, ZrSTL1 and ZrSTL2, encoding transporters mediating the active uptake of glycerol in symport with protons, contributing to cell osmotolerance and intracellular pH homeostasis. The growth of mutants lacking one or both transporters is affected depending on the growth medium, carbon source, strain auxotrophies, osmotic conditions and the presence of external glycerol. These transporters are localised in the plasma membrane, they transport glycerol with similar kinetic parameters and besides their expected involvement in the cell survival of hyperosmotic stress, they surprisingly both contribute to an efficient survival of hypoosmotic shock and to the maintenance of intracellular pH homeostasis under non-stressed conditions. Unlike STL1 in Sa. cerevisiae, the two Z. rouxii STL genes are not repressed by glucose, but their expression and activity are downregulated by fructose and upregulated by non-fermentable carbon sources, with ZrSTL1 being more influenced than ZrSTL2. In summary, both transporters are highly important, though Z. rouxii CBS 732(T) cells do not use external glycerol as a source of carbon.

• MeSH
• biologický transport MeSH
• delece genu MeSH
• fyziologický stres MeSH
• glycerol metabolismus   MeSH
• koncentrace vodíkových iontů MeSH
• kultivační média chemie   MeSH
• mikrobiální viabilita MeSH
• organické látky metabolismus   MeSH
• osmoregulace * MeSH
• osmotický tlak MeSH
• regulace genové exprese u hub účinky léků   MeSH
• symportéry genetika   metabolismus   MeSH
• Zygosaccharomyces genetika   růst a vývoj   metabolismus   fyziologie   MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• glycerol MeSH
• kultivační média MeSH
• organické látky MeSH
• symportéry MeSH

Mercury is a prominent environmental contaminant that causes endocrine disorder to human and other organisms. But little is known about the response of the thyroid functions and hypothalamic-pituitary-thyroid (HPT) axis to mercury in teleosts and the few studies that are available have not yielded consistent results. In this study, expression profiles of corticotropin-releasing hormone (crh), thyroid stimulating hormone beta (tshβ), solute carrier family 5 (sodium iodide symporter) member 5 (slc5a5), thyroglobulin (tg), thyroid hormone receptor alpha (trα) and thyroid hormone receptor beta (trβ) genes were determined in whole-body of Chinese rare minnow (Gobiocypris rarus) larvae after exposure to different levels of Hg(2+) (0, 0.1 and 0.3 mg/l) for 4 days, as well as the thyroid hormones (THs) levels. Moreover, the 96-h lethal concentration of Hg(2+) on rare minnow larvae was determined as 0.32 mg/l. The results showed that crh, tg, trα and trβ mRNA levels were significantly up-regulated in the larvae, but the gene expression of tshβ and slc5a5 was not significantly changed in our study. Besides, the THs levels increased in the whole-body of fish, especially the thyroxine (T4) level. The above results indicated that Hg(2+) could alter some genes expression in the HPT axis which could be used as the potential biomarkers for evaluating the environmental Hg(2+)-induced stress in fish.

• Klíčová slova
• Chinese rare minnow, Gene expression, Hypothalamic–pituitary–thyroid axis, Mercury, Thyroid hormone,
• MeSH
• beta podjednotka tyreotropinu genetika   MeSH
• chemické látky znečišťující vodu toxicita   MeSH
• chlorid rtuťnatý toxicita   MeSH
• Cyprinidae genetika   metabolismus   MeSH
• hormon uvolňující kortikotropin genetika   MeSH
• larva účinky léků   genetika   metabolismus   MeSH
• LD50 MeSH
• regulace genové exprese účinky léků   MeSH
• symportéry genetika   MeSH
• thyreoglobulin genetika   MeSH
• thyroxin metabolismus   MeSH
• trijodthyronin metabolismus   MeSH
• tyreoidální hormony, receptory alfa genetika   MeSH
• tyreoidální hormony, receptory beta genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• beta podjednotka tyreotropinu MeSH
• chemické látky znečišťující vodu MeSH
• chlorid rtuťnatý MeSH
• hormon uvolňující kortikotropin MeSH
• sodium-iodide symporter MeSH Prohlížeč
• symportéry MeSH
• thyreoglobulin MeSH
• thyroxin MeSH
• trijodthyronin MeSH
• tyreoidální hormony, receptory alfa MeSH
• tyreoidální hormony, receptory beta MeSH

INTRODUCTION: Gitelman syndrome (GS) is a very rare autosomal recessive tubulopathy due to loss-of-function or mutation in solute carrier family12, member 3 gene (SLC12A3 gene) encoding thiazide-sensitive NaCl co-transporter in the distal convoluted tubule, leading to hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and low-to-normal blood pressure. Clinical signs are mostly secondary to chronic hypokalemia and include dizziness, fatigue, constipation and weakness. Patients can also present with muscle cramps, tetany, fatigue and convulsions due to severe metabolic alkalosis or hypomagnesemia. Manifestations of GS are rarely apparent before the age of five, and the syndrome is usually diagnosed during adolescence or adulthood. Here we describe a case of GS presenting in infancy with hypokalemia and psychomotor retardation. CASE REPORT: We present an 18-month-old boy who presented with psychomotor retardation and failure to thrive. Investigations revealed hypokalemia at 2.7 mmol/L, metabolic alkalosis, hypocalciuria and normal serum magnesium level. The diagnoses of Barter syndrome (BS) and Gitelman syndrome (GS) were considered. Genetic studies confirmed the diagnosis of GS and three different mutations of in SLC12A3 gene were detected. Two mutations (c.2576T>C and c.2929C>Ty) were considered as causal ones, with the patient´s parents being the heterozygous carriers. Oral potassium supplementation resulted in normalisation of the hypokalemia and psychomotor improvement. CONCLUSION: We report a rare case of psychomotor retardation occurring at an early age in genetically confirmed GS. In spite of being a rare disorder, GS has to be considered in children with developmental delay and muscle weakness. With adequate treatment, GS patients have an excellent prognosis.

• MeSH
• chlorid draselný terapeutické užití   MeSH
• diuretika terapeutické užití   MeSH
• Gitelmanův syndrom komplikace   farmakoterapie   genetika   MeSH
• kojenec MeSH
• lidé MeSH
• neprospívání etiologie   MeSH
• potravní doplňky MeSH
• psychomotorické poruchy farmakoterapie   etiologie   MeSH
• receptory léků genetika   MeSH
• rodina nosičů rozpuštěných látek 12, člen 3 MeSH
• spironolakton terapeutické užití   MeSH
• symportéry genetika   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• chlorid draselný MeSH
• diuretika MeSH
• receptory léků MeSH
• rodina nosičů rozpuštěných látek 12, člen 3 MeSH
• SLC12A3 protein, human MeSH Prohlížeč
• spironolakton MeSH
• symportéry MeSH

Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Patients with clinical symptoms of antenatal form of Bartter syndrome were screened for mutations in two different genes: KCNJ1 and SLC12A1. The aim was to establish genetic mutation screening of Bartter/Gitelman syndrome and to confirm the proposed diagnosis. We have identified seven different causative mutations in the SLC12A3 gene, four in the CLCNKB gene, two in the SLC12A1 gene, and none in the KCNJ1 gene. Nine of these mutations are novel. In one case, genetic analysis led to re-evaluation of diagnosis between the Gitelman and classic form of Bartter syndrome.

• MeSH
• Bartterův syndrom genetika   MeSH
• chloridové kanály genetika   MeSH
• draslíkové kanály dovnitř usměrňující genetika   MeSH
• Gitelmanův syndrom genetika   MeSH
• ledviny MeSH
• lidé MeSH
• membránové transportní proteiny genetika   MeSH
• mutace * MeSH
• receptory léků genetika   MeSH
• rodina nosičů rozpuštěných látek 12, člen 1 MeSH
• rodina nosičů rozpuštěných látek 12, člen 3 MeSH
• sodík-draslík-chloridové symportéry genetika   MeSH
• symportéry genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• chloridové kanály MeSH
• CLCNKB protein, human MeSH Prohlížeč
• draslíkové kanály dovnitř usměrňující MeSH
• KCNJ1 protein, human MeSH Prohlížeč
• membránové transportní proteiny MeSH
• receptory léků MeSH
• rodina nosičů rozpuštěných látek 12, člen 1 MeSH
• rodina nosičů rozpuštěných látek 12, člen 3 MeSH
• SLC12A1 protein, human MeSH Prohlížeč
• SLC12A3 protein, human MeSH Prohlížeč
• sodík-draslík-chloridové symportéry MeSH
• symportéry MeSH