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SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.
Chan YH, Lundberg V, Le Pen J, Yuan J, Lee D, Pinci F, Volpi S, Nakajima K, Bondet V, Åkesson S, Khobrekar NV, Bodansky A, Du L, Melander T, Mariaggi AA, Seeleuthner Y, Saleh TS, Chakravarty D, Marits P, [...] Zhang SY
J Exp Med, 221(9):e20231725, 18 Jul 2024
Cited by: 0 articles | PMID: 39023559 | PMCID: PMC11256911
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Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, [...] Omran H
Am J Respir Crit Care Med, 210(1):63-76, 01 Jul 2024
Cited by: 3 articles | PMID: 38626355 | PMCID: PMC11197063
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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, [...] Mill P
Science, 384(6694):eadf5489, 26 Apr 2024
Cited by: 6 articles | PMID: 38662826 | PMCID: PMC7616230
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LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
Hwang JY, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton RP, Ahmad W, Zhang K, Chung JJ
Elife, 12:RP90095, 13 Dec 2023
Cited by: 3 articles | PMID: 38091523 | PMCID: PMC10721216
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Decoding negative genetic panels in primary ciliary dyskinesia.
Gardner RA, Sagel SD, Knowles MR, Ferkol TW, Davis SD, Leigh MW, Zariwala MA
Pediatr Pulmonol, 59(3):784-787, 05 Dec 2023
Cited by: 1 article | PMID: 38051289
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Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P, Chaldebas M, Ogishi M, Al Qureshah F, Ponsin K, Feng Y, Rinchai D, Milisavljevic B, Han JE, Moncada-Vélez M, Keles S, Schröder B, Stenson PD, Cooper DN, Cobat A, Boisson B, Zhang Q, Boisson-Dupuis S, Abel L, Casanova JL
Proc Natl Acad Sci U S A, 120(46):e2314225120, 06 Nov 2023
Cited by: 2 articles | PMID: 37931111 | PMCID: PMC10655562
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Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Bohlen J, Zhou Q, Philippot Q, Ogishi M, Rinchai D, Nieminen T, Seyedpour S, Parvaneh N, Rezaei N, Yazdanpanah N, Momenilandi M, Conil C, Neehus AL, Schmidt C, Arango-Franco CA, Voyer TL, Khan T, Yang R, Puchan J, [...] Casanova JL
Cell, 186(23):5114-5134.e27, 23 Oct 2023
Cited by: 8 articles | PMID: 37875108 | PMCID: PMC10841658
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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG
Hum Mol Genet, 32(15):2441-2454, 01 Jul 2023
Cited by: 7 articles | PMID: 37133451 | PMCID: PMC10360397
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Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia.
Su HC, Jing H, Zhang Y, Casanova JL
Annu Rev Immunol, 41:561-585, 01 Apr 2023
Cited by: 14 articles | PMID: 37126418
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, [...] Cobat A
Genome Med, 15(1):22, 05 Apr 2023
Cited by: 32 articles | PMID: 37020259 | PMCID: PMC10074346
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Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW
Ann Am Thorac Soc, 20(4):539-547, 01 Apr 2023
Cited by: 13 articles | PMID: 36442147 | PMCID: PMC10112400
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Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.
Gulati A, Dahl NK, Hartung EA, Clark SL, Moudgil A, Goodwin J, Somlo S
Kidney360, 4(3):387-392, 01 Mar 2023
Cited by: 3 articles | PMID: 36706243 | PMCID: PMC10103195
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Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.
Barber AT, Shapiro AJ, Davis SD, Ferkol TW, Atkinson JJ, Sagel SD, Dell SD, Olivier KN, Milla CE, Rosenfeld M, Li L, Lin FC, Sullivan KM, Capps NA, Zariwala MA, Knowles MR, Leigh MW
Ann Am Thorac Soc, 20(3):397-405, 01 Mar 2023
Cited by: 5 articles | PMID: 36342963 | PMCID: PMC9993158
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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Elmas Bozdemir S, Bayhan GI, Beaufils C, Bizien L, Bisiaux A, Lei W, [...] Casanova JL
Science, 379(6632):eabo3627, 10 Feb 2023
Cited by: 60 articles | PMID: 36538032 | PMCID: PMC10451000
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Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.
Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Türel Ö, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guérin A, Bastard P, Moncada-Vélez M, [...] Bustamante J
Cell, 186(3):621-645.e33, 01 Feb 2023
Cited by: 37 articles | PMID: 36736301 | PMCID: PMC9907019
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Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
Klämbt V, Buerger F, Wang C, Naert T, Richter K, Nauth T, Weiss AC, Sieckmann T, Lai E, Connaughton DM, Seltzsam S, Mann N, Majmundar AJ, Wu CW, Onuchic-Whitford AC, Shril S, Schneider S, Schierbaum L, Dai R, [...] Hildebrandt F
J Am Soc Nephrol, 34(2):273-290, 01 Feb 2023
Cited by: 1 article | PMID: 36414417 | PMCID: PMC10103091
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HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.
Shapiro AJ, Sillon G, D'Agostino D, Baret L, López-Giráldez F, Mane S, Leigh MW, Davis SD, Knowles MR, Zariwala MA
Ann Am Thorac Soc, 20(1):140-144, 01 Jan 2023
Cited by: 2 articles | PMID: 36112114 | PMCID: PMC9819264
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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CW, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun DA, Jobst-Schwan T, Lawson JA, Zahoor MY, Rodig NM, Tasic V, Nelson CP, Khaliq S, Schönauer R, [...] Hildebrandt F
Genet Med, 25(3):100351, 06 Dec 2022
Cited by: 1 article | PMID: 36571463 | PMCID: PMC9992313
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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, [...] Béziat V
J Exp Med, 220(2):e20220275, 14 Dec 2022
Cited by: 9 articles | PMID: 36515678 | PMCID: PMC9754768
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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, [...] Maroofian R
Genet Med, 25(1):135-142, 18 Nov 2022
Cited by: 2 articles | PMID: 36399134 | PMCID: PMC10620944
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Genome-wide detection of human variants that disrupt intronic branchpoints.
Zhang P, Philippot Q, Ren W, Lei WT, Li J, Stenson PD, Palacín PS, Colobran R, Boisson B, Zhang SY, Puel A, Pan-Hammarström Q, Zhang Q, Cooper DN, Abel L, Casanova JL
Proc Natl Acad Sci U S A, 119(44):e2211194119, 28 Oct 2022
Cited by: 20 articles | PMID: 36306325 | PMCID: PMC9636908
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A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.
Shapiro AJ, Stonebraker JR, Knowles MR, Zariwala MA
Am J Respir Cell Mol Biol, 67(4):511-514, 01 Oct 2022
Cited by: 3 articles | PMID: 36178856 | PMCID: PMC9648669
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Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia.
Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, Ferkol TW, Knowles MR, Milla C, Sagel SD, Zariwala MA, Pullenayegum E, Dell SD
Ann Am Thorac Soc, 19(11):1865-1870, 01 Nov 2022
Cited by: 6 articles | PMID: 35657736 | PMCID: PMC9667809
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Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, [...] Baple EL
Genet Med, 24(11):2249-2261, 08 Sep 2022
Cited by: 3 articles | PMID: 36074124 | PMCID: PMC10584193
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Lower disease activity but higher risk of severe COVID-19 and herpes zoster in patients with systemic lupus erythematosus with pre-existing autoantibodies neutralising IFN-α.
Mathian A, Breillat P, Dorgham K, Bastard P, Charre C, Lhote R, Quentric P, Moyon Q, Mariaggi AA, Mouries-Martin S, Mellot C, Anna F, Haroche J, Cohen-Aubart F, Sterlin D, Zahr N, Gervais A, Le Voyer T, Bizien L, [...] Gorochov G
Ann Rheum Dis, 81(12):1695-1703, 16 Aug 2022
Cited by: 35 articles | PMID: 35973806
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1-25 of 163 results

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Search life-sciences literature (45,104,206 articles, preprints and more)

Search results

SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.

Decoding negative genetic panels in primary ciliary dyskinesia.

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Interfering with Interferons: A Critical Mechanism for Critical COVID-19 Pneumonia.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.

Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.

Laterality Defects in Primary Ciliary Dyskinesia: Relationship to Ultrastructural Defect or Genotype.

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria.

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians.

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

Genome-wide detection of human variants that disrupt intronic branchpoints.

A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia.

Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia.

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.

Lower disease activity but higher risk of severe COVID-19 and herpes zoster in patients with systemic lupus erythematosus with pre-existing autoantibodies neutralising IFN-α.

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