Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

Article  CAS  PubMed  PubMed Central  Google Scholar 

Amiri-Yekta A, Coutton C, Kherraf Z-E, Karaouzène T, Le Tanno P, Sanati MH, et al. (2016) Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations. Hum Reprod:1–9

Apweiler R, Bairoch A, Wu CH, Barker WC, Boeckmann B, Ferro S et al (2004) UniProt: the universal protein knowledgebase. Nucleic Acids Res 32:D115–D119

Article  CAS  PubMed  PubMed Central  Google Scholar 

Asai DJ, Koonce MP (2001) The dynein heavy chain: structure, mechanics and evolution. Trends Cell Biol 11:196–202

Article  CAS  PubMed  Google Scholar 

Ashkenazy H, Abadi S, Martz E, Chay O, Mayrose I, Pupko T et al (2016) ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules. Nucleic Acids Res 44:W344–W350

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boivin J, Bunting L, Collins JA, Nygren KG (2007) International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod 22:1506–1512

Article  PubMed  Google Scholar 

Breuer K, Riedhammer KM, Müller N, Schaidinger B, Dombrowsky G, Dittrich S et al (2022) Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. Eur J Hum Genet 30:946–954

Article  CAS  PubMed  PubMed Central  Google Scholar 

Capriotti E, Fariselli P (2017) PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants. Nucleic Acids Res 45:W247–W252

Article  CAS  PubMed  PubMed Central  Google Scholar 

Carter H, Douville C, Stenson PD, Cooper DN, Karchin R (2013) Identifying Mendelian disease genes with the variant effect scoring tool. BMC Genomics 14:1–16

Article  Google Scholar 

Chan K-M, Fang D, Gan H, Hashizume R, Yu C, Schroeder M et al (2013) The histone H3. 3K27M mutation in pediatric glioma reprograms H3K27 methylation and gene expression. Genes Dev 27:985–990

Article  CAS  PubMed  PubMed Central  Google Scholar 

Curi S, Ariagno J, Chenlo P, Mendeluk GR, Pugliese M, Sardi Segovia L et al (2003) Asthenozoospermia: analysis of a large population. Arch Androl 49:343–349

Article  CAS  PubMed  Google Scholar 

Deller MC, Kong L, Rupp B (2016) Protein stability: a crystallographer’s perspective. Acta Crystallogr Sect F Struct Biol Commun 72:72–95

Article  CAS  Google Scholar 

DePristo MA, Weinreich DM, Hartl DL (2005) Missense meanderings in sequence space: a biophysical view of protein evolution. Nat Rev Genet 6:678–687

Article  CAS  PubMed  Google Scholar 

Douville C, Carter H, Kim R, Niknafs N, Diekhans M, Stenson PD et al (2013) CRAVAT: cancer-related analysis of variants toolkit. Bioinformatics 29:647–648

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferlin A (2012) New genetic markers for male fertility. Asian J Androl 14:807–808

Article  CAS  PubMed  PubMed Central  Google Scholar 

Guerri G, Maniscalchi T, Barati S, Busetto GM, Del Giudice F, De Berardinis E et al (2019) Non-syndromic monogenic male infertility. Acta Biomed 90:62–67

CAS  PubMed  PubMed Central  Google Scholar 

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33:D514–D517

Article  CAS  PubMed  Google Scholar 

Hildebrand JM, Kauppi M, Majewski IJ, Liu Z, Cox AJ, Miyake S et al (2020) A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction. Nat Commun 11:3150

Article  CAS  PubMed  PubMed Central  Google Scholar 

Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L et al (2022) A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships. Hum Reprod Update 28:15–29

Article  CAS  Google Scholar 

Hu H-y, Wei T-y, Feng Z-k, Li S-j, Zhao R, Yi X-l et al (2021) Novel biallelic DNAH1 variations cause multiple morphological abnormalities of the sperm flagella. DNA Cell Biol 40:833–840

Article  CAS  PubMed  Google Scholar 

Inaba K (2003) Molecular architecture of the sperm flagella: molecules for motility and signaling. Zoolog Sci 20:1043–1056

Article  CAS  PubMed  Google Scholar 

Inaba K (2011) Sperm flagella: comparative and phylogenetic perspectives of protein components. Mol Hum Reprod 17:524–538

Article  CAS  PubMed  Google Scholar 

Khelifa MB, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M et al (2014) Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella. Am J Hum Genet 94:95–104

Article  PubMed  PubMed Central  Google Scholar 

Ko S, Toda A, Tanaka H, Yu J, Kurisu G (2023) Crystal structure of the stalk region of axonemal inner-arm dynein-d reveals unique features in the coiled-coil and microtubule-binding domain. FEBS Lett 597:2149–2160

Article  CAS  PubMed  Google Scholar 

Krausz C, Riera-Escamilla A (2018) Genetics of male infertility. Nat Rev Urol 15:369–384

Article  CAS  PubMed  Google Scholar 

Latifnejad Roudsari R, Jafari H, Taghipour A, Khadem N, Ebrahimzdeh S (2013) The association of religious beliefs in infertile couples’ attitude towards donation procedures and its selection as a therapeutic approach to infertility. Iran J Obstet Gynecol Infertil 16:1–10

Google Scholar 

Madhivanan A, Venugopal V, Dongre AR (2020) Physical violence against doctors: a content analysis from online Indian newspapers. Indian J Community Med 45:108–109

Article  PubMed  PubMed Central  Google Scholar 

Magrane M, Consortium U (2011) UniProt Knowledgebase: a hub of integrated protein data. Database 2011:bar009

Martin DD, Kay C, Collins JA, Nguyen YT, Slama RA, Hayden MR (2018) A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease. Sci Rep 8:8096

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pattin KA, Moore JH (2009) Role for protein–protein interaction databases in human genetics. Expert Rev Proteomics 6:647–659

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pazour GJ, Agrin N, Walker BL, Witman GB (2006) Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes. J Med Genet 43:62–73

Article  CAS  PubMed  Google Scholar 

Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam H-J, et al. (2017) MutPred2: inferring the molecular and phenotypic impact of amino acid variants. bioRxiv:134981

Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, Meng EC et al (2004) UCSF Chimera—a visualization system for exploratory research and analysis. J Comput Chem 25:1605–1612

Article  CAS  PubMed  Google Scholar