Search Results - "Harlalka, Gaurav V."

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice by Rawlins, Lettie E, Almousa, Hashem, Khan, Shazia, Collins, Stephan C, Milev, Miroslav P, Leslie, Joseph, Saint-Dic, Djenann, Khan, Valeed, Hincapie, Ana Maria, Day, Jacob O, McGavin, Lucy, Rowley, Christine, Harlalka, Gaurav V, Vancollie, Valerie E, Ahmad, Wasim, Lelliott, Christopher J, Gul, Asma, Yalcin, Binnaz, Crosby, Andrew H, Sacher, Michael, Baple, Emma L

“…The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking…”
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Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis by HARLALKA, Gaurav V, LEHMAN, Anna, PROUKAKIS, Christos, ROYLE, Louise, KOZAK, Radoslaw P, BASTAKI, Laila, PATTON, Michael, WAGNER, Karin, COBLENTZ, Roselyn, PRICE, Joy, MEZEI, Michelle, SCHLADE-BARTUSIAK, Kamilla, CHIOZA, Barry, PLATT, Frances M, HURLES, Matthew E, CROSBY, Andrew H, BAPLE, Emma L, MAROOFIAN, Reza, CROSS, Harold, SREEKANTAN-NAIR, Ajith, PRIESTMAN, David A, AL-TURKI, Saeed, MCENTAGART, Meriel E

“…Glycosphingolipids are ubiquitous constituents of eukaryotic plasma membranes, and their sialylated derivatives, gangliosides, are the major class of…”
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Hypomorphic PCNA mutation underlies a human DNA repair disorder by Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M, Crosby, Andrew H

“…Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes…”
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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia by Rawlins, Lettie E, Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V, Chioza, Barry A, Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H, Baple, Emma L

“…The centrosomal protein 55 kDa (CEP55 (OMIM 610000)) plays a fundamental role in cell cycle regulation and cytokinesis. However, the precise role of CEP55 in…”
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Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families by Khan, Shazia, Rawlins, Lettie E, Harlalka, Gaurav V, Umair, Muhammad, Ullah, Asmat, Shahzad, Shaheen, Javed, Muhammad, Baple, Emma L, Crosby, Andrew H, Ahmad, Wasim, Gul, Asma

“…Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare,…”
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Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families by Akbar, Abida, Bint‐e‐Farrakh, Muneeba, Crosby, Andrew H., Gul, Asma, Harlalka, Gaurav V.

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Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families by Akbar, Abida, Prince, Claire, Payne, Chloe, Fasham, James, Ahmad, Wasim, Baple, Emma L, Crosby, Andrew H, Harlalka, Gaurav V, Gul, Asma

“…Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by…”
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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice by Muggenthaler, Martina M A, Chowdhury, Biswajit, Hasan, S Naimul, Cross, Harold E, Mark, Brian, Harlalka, Gaurav V, Patton, Michael A, Ishida, Miho, Behr, Elijah R, Sharma, Sanjay, Zahka, Kenneth, Faqeih, Eissa, Blakley, Brian, Jackson, Mike, Lees, Melissa, Dolinsky, Vernon, Cross, Leroy, Stanier, Philip, Salter, Claire, Baple, Emma L, Alkuraya, Fowzan S, Crosby, Andrew H, Triggs-Raine, Barbara, Chioza, Barry A

“…Orofacial clefting is amongst the most common of birth defects, with both genetic and environmental components. Although numerous studies have been undertaken…”
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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature by Lin, Siying, Harlalka, Gaurav V, Hameed, Abdul, Reham, Hadia Moattar, Yasin, Muhammad, Muhammad, Noor, Khan, Saadullah, Baple, Emma L, Crosby, Andrew H, Saleha, Shamim

“…Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic…”
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Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) by Lin, Siying, Sanchez-Bretaño, Aida, Leslie, Joseph S., Williams, Katie B., Lee, Helena, Thomas, N. Simon, Callaway, Jonathan, Deline, James, Ratnayaka, J. Arjuna, Baralle, Diana, Schmitt, Melanie A., Norman, Chelsea S., Hammond, Sheri, Harlalka, Gaurav V., Ennis, Sarah, Cross, Harold E., Wenger, Olivia, Crosby, Andrew H., Baple, Emma L., Self, Jay E.

“…Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in…”
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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis by Ahmed, Mustafa Y, Al-Khayat, Aisha, Al-Murshedi, Fathiya, Al-Futaisi, Amna, Chioza, Barry A, Pedro Fernandez-Murray, J, Self, Jay E, Salter, Claire G, Harlalka, Gaurav V, Rawlins, Lettie E, Al-Zuhaibi, Sana, Al-Azri, Faisal, Al-Rashdi, Fatma, Cazenave-Gassiot, Amaury, Wenk, Markus R, Al-Salmi, Fatema, Patton, Michael A, Silver, David L, Baple, Emma L, McMaster, Christopher R, Crosby, Andrew H

“…Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly…”
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Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes by Khan, Shazia, Umair, Muhammad, Abbas, Safdar, Ali, Uroba, Zaman, Gohar, Ansar, Muhammad, Wang, Rongrong, Zhang, Xue, Houlden, Henry, Harlalka, Gaurav V, Gul, Asma

“…Population diversity is important and rare disease isolates can frequently reveal novel homozygous or biallelic mutations that lead to expanded clinical…”
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PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment by Zollo, Massimo, Ahmed, Mustafa, Ferrucci, Veronica, Salpietro, Vincenzo, Asadzadeh, Fatemeh, Carotenuto, Marianeve, Maroofian, Reza, Al-Amri, Ahmed, Singh, Royana, Scognamiglio, Iolanda, Mojarrad, Majid, Musella, Luca, Duilio, Angela, Di Somma, Angela, Karaca, Ender, Rajab, Anna, Al-Khayat, Aisha, Mohan Mohapatra, Tribhuvan, Eslahi, Atieh, Ashrafzadeh, Farah, Rawlins, Lettie E, Prasad, Rajniti, Gupta, Rashmi, Kumari, Preeti, Srivastava, Mona, Cozzolino, Flora, Kumar Rai, Sunil, Monti, Maria, Harlalka, Gaurav V, Simpson, Michael A, Rich, Philip, Al-Salmi, Fatema, Patton, Michael A, Chioza, Barry A, Efthymiou, Stephanie, Granata, Francesca, Di Rosa, Gabriella, Wiethoff, Sarah, Borgione, Eugenia, Scuderi, Carmela, Mankad, Kshitij, Hanna, Michael G, Pucci, Piero, Houlden, Henry, Lupski, James R, Crosby, Andrew H, Baple, Emma L

“…PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression…”
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MNS1 variant associated with situs inversus and male infertility by Leslie, Joseph S, Rawlins, Lettie E, Chioza, Barry A, Olubodun, Oluwaseun R, Salter, Claire G, Fasham, James, Jones, Hannah F, Cross, Harold E, Lam, Simon, Harlalka, Gaurav V, Muggenthaler, Martina M A, Crosby, Andrew H, Baple, Emma L

“…Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease,…”
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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa by Li, Lin, Jiao, Xiaodong, D'Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A, Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V, Michaelides, Michel, Moore, Anthony T, Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R, Cremers, Frans P M, Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A, Riazuddin, Sheikh, Baple, Emma L, Riazuddin, S Amer, Crosby, Andrew H, Hejtmancik, J Fielding

“…We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the…”
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Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 by Jinks, Robert N, Puffenberger, Erik G, Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B, Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E, McGlincy, Madeleine H, Provencher, Margaret M, Smith, Jeffrey D, Tran, Linh, Al Turki, Saeed, Chioza, Barry A, Cross, Harold, Harlalka, Gaurav V, Hurles, Matthew E, Maroofian, Reza, Heaps, Adam D, Morton, Mary C, Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E, Zaritsky, Joshua, Campellone, Kenneth, Morton, D Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A

“…We describe a novel nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum among 30 children (ages 1.0 to 28 years) from diverse Amish demes…”
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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families by Shakil, Muhammad, Harlalka, Gaurav V., Ali, Shamshad, Lin, Siying, D’Atri, Ilaria, Hussain, Shabbir, Nasir, Abdul, Shahzad, Muhammad Aiman, Ullah, Muhammad Ikram, Self, Jay E., Baple, Emma L., Crosby, Andrew H., Mahmood, Saqib

“…Purpose To investigate eight previously unreported Pakistani families with genetically undefined OCA for mutations in TYR . Methods Sanger sequencing of TYR…”
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BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan by Khan, Shazia, Lin, Siying, Harlalka, Gaurav V., Ullah, Asmat, Shah, Khadim, Khalid, Sumbul, Mehmood, Sarmad, Hassan, Muhammad Jawad, Ahmad, Wasim, Self, Jay E., Crosby, Andrew H., Baple, Emma L., Gul, Asma

“…Ciliopathies are a clinically and genetically heterogeneous group of disorders often exhibiting phenotypic overlap and caused by abnormalities in the structure…”
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Mutation of HERC2 causes developmental delay with Angelman-like features by Harlalka, Gaurav V, Baple, Emma L, Cross, Harold, Kühnle, Simone, Cubillos-Rojas, Monica, Matentzoglu, Konstantin, Patton, Michael A, Wagner, Karin, Coblentz, Roselyn, Ford, Debra L, Mackay, Deborah J G, Chioza, Barry A, Scheffner, Martin, Rosa, Jose Luis, Crosby, Andrew H

“…Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin…”
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A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees by Khan, Kamal, Mehmood, Sarmad, Liu, Chunyu, Siddiqui, Maimoona, Ahmad, Arsalan, Faiz, Belqees Yawar, Chioza, Barry A., Baple, Emma A., Ullah, Muhammad I., Akram, Zaineb, Satti, Humayoon S., Khan, Raees, Harlalka, Gaurav V., Jameel, Muhammad, Akram, Talia, Baig, Shahid M., Crosby, Andrew H., Hassan, Muhammad J., Zhang, Feng, Davis, Erica E., Khan, Tahir N.

“…Autosomal recessive limb‐girdle muscular dystrophy‐1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and…”
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