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Familial Aggregation in Idiopathic Subglottic Stenosis.
Drake VE, Gelbard A, Sobriera N, Wohler E, Berry LL, Hussain LL, Hillel A
(2020) Otolaryngol Head Neck Surg 163: 1011-1017
MeSH Terms: Adult, Age of Onset, Family, Female, Humans, Inheritance Patterns, Laryngostenosis, Male, Middle Aged, Patient Acuity, Pedigree, Retrospective Studies
Added July 30, 2020
0 Communities
1 Members
0 Resources
12 MeSH Terms
Genetic Mosaicism in Calmodulinopathy.
Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL
(2019) Circ Genom Precis Med 12: 375-385
MeSH Terms: Arrhythmias, Cardiac, Base Sequence, Calcium, Calmodulin, Child, Preschool, Electrophysiology, Female, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Male, Mosaicism, Mutation, Missense, Pedigree
Added March 11, 2020
0 Communities
1 Members
0 Resources
15 MeSH Terms
variants in cause sporadic early-onset progressive sensorimotor neuropathy.
Park J, Flores BR, Scherer K, Kuepper H, Rossi M, Rupprich K, Rautenberg M, Deininger N, Weichselbaum A, Grimm A, Sturm M, Grasshoff U, Delpire E, Haack TB
(2020) J Med Genet 57: 283-288
MeSH Terms: Adolescent, Age of Onset, Agenesis of Corpus Callosum, Charcot-Marie-Tooth Disease, Child, Female, Genotype, Hereditary Sensory and Autonomic Neuropathies, Humans, Infant, Magnetic Resonance Imaging, Male, Mutation, Pedigree, Peripheral Nervous System Diseases, Phenotype, Symporters
Added March 18, 2020
0 Communities
1 Members
0 Resources
17 MeSH Terms
A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function.
Cai K, Wang J, Eissman J, Wang J, Nwosu G, Shen W, Liang HC, Li XJ, Zhu HX, Yi YH, Song J, Xu D, Delpire E, Liao WP, Shi YW, Kang JQ
(2019) Exp Neurol 320: 112973
MeSH Terms: Adolescent, Animals, GABA Plasma Membrane Transport Proteins, HEK293 Cells, HeLa Cells, Humans, Lennox Gastaut Syndrome, Male, Mutation, Missense, Pedigree, Protein Transport, Rats
Added March 18, 2020
0 Communities
1 Members
0 Resources
MeSH Terms
Patient-independent human induced pluripotent stem cell model: A new tool for rapid determination of genetic variant pathogenicity in long QT syndrome.
Chavali NV, Kryshtal DO, Parikh SS, Wang L, Glazer AM, Blackwell DJ, Kroncke BM, Shoemaker MB, Knollmann BC
(2019) Heart Rhythm 16: 1686-1695
MeSH Terms: Action Potentials, Calcium Channels, L-Type, Child, Clustered Regularly Interspaced Short Palindromic Repeats, Female, Gene Editing, Genetic Testing, Genetic Variation, Humans, Induced Pluripotent Stem Cells, Long QT Syndrome, Pedigree, Phenotype
Added March 4, 2020
0 Communities
1 Members
0 Resources
13 MeSH Terms
Exploiting ion channel structure to assess rare variant pathogenicity.
Kroncke BM, Yang T, Kannankeril P, Shoemaker MB, Roden DM
(2018) Heart Rhythm 15: 890-894
MeSH Terms: Adolescent, Adult, Body Surface Potential Mapping, DNA, DNA Mutational Analysis, ERG1 Potassium Channel, Female, Humans, KCNQ1 Potassium Channel, Long QT Syndrome, Mutation, Pedigree, Phenotype
Added March 26, 2019
0 Communities
3 Members
0 Resources
MeSH Terms
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Jun G, Manning A, Almeida M, Zawistowski M, Wood AR, Teslovich TM, Fuchsberger C, Feng S, Cingolani P, Gaulton KJ, Dyer T, Blackwell TW, Chen H, Chines PS, Choi S, Churchhouse C, Fontanillas P, King R, Lee S, Lincoln SE, Trubetskoy V, DePristo M, Fingerlin T, Grossman R, Grundstad J, Heath A, Kim J, Kim YJ, Laramie J, Lee J, Li H, Liu X, Livne O, Locke AE, Maller J, Mazur A, Morris AP, Pollin TI, Ragona D, Reich D, Rivas MA, Scott LJ, Sim X, Tearle RG, Teo YY, Williams AL, Zöllner S, Curran JE, Peralta J, Akolkar B, Bell GI, Burtt NP, Cox NJ, Florez JC, Hanis CL, McKeon C, Mohlke KL, Seielstad M, Wilson JG, Atzmon G, Below JE, Dupuis J, Nicolae DL, Lehman D, Park T, Won S, Sladek R, Altshuler D, McCarthy MI, Duggirala R, Boehnke M, Frayling TM, Abecasis GR, Blangero J
(2018) Proc Natl Acad Sci U S A 115: 379-384
MeSH Terms: Diabetes Mellitus, Type 2, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Mexican Americans, Pedigree, Phenotype, Quantitative Trait Loci, Whole Genome Sequencing
Added March 15, 2018
0 Communities
1 Members
0 Resources
15 MeSH Terms
Shared Genetic Control of Brain Activity During Sleep and Insulin Secretion: A Laboratory-Based Family Study.
Morselli LL, Gamazon ER, Tasali E, Cox NJ, Van Cauter E, Davis LK
(2018) Diabetes 67: 155-164
MeSH Terms: Adiposity, Adult, Blood Glucose, Brain, Electroencephalography, Female, Glucose Tolerance Test, Humans, Insulin, Insulin Secretion, Male, Middle Aged, Pedigree, Sleep
Added November 29, 2017
0 Communities
2 Members
0 Resources
14 MeSH Terms
A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.
Hu B, Wang M, Castoro R, Simmons M, Dortch R, Yawn R, Li J
(2017) Eur J Neurol 24: 1499-1506
MeSH Terms: Apoptosis Inducing Factor, Charcot-Marie-Tooth Disease, Female, Humans, Male, Mitochondria, Mutation, Missense, Pedigree, Phenotype
Added October 24, 2018
0 Communities
1 Members
0 Resources
MeSH Terms
A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP
(2017) Invest Ophthalmol Vis Sci 58: 2774-2784
MeSH Terms: Adult, Aged, Arrestin, DNA Mutational Analysis, Exons, Female, Genes, Dominant, High-Throughput Nucleotide Sequencing, Hispanic Americans, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Retina, Retinitis Pigmentosa, Southwestern United States
Added March 14, 2018
0 Communities
1 Members
0 Resources
17 MeSH Terms