Search Results

Display Settings
Results per page: 25
Sort By: Relevance
Filter
  • 1-25 of  153 results for ""MEMBRANE proteins""

Your Filters

Filter by : Subject Publication : journal of human genetics
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.

  • Authors : Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/geneticsAgenesis of Cerebellar Vermis

  • Source: Journal of human genetics [J Hum Genet] 2023 Jul; Vol. 68 (7), pp. 499-505. Date of Electronic Publication: 2023 Mar 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.

  • Authors : Zhou X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.; Lou X

Subjects: Leigh Disease*/Leigh Disease*/Leigh Disease*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics; Humans Mitochondrial complex I deficiency

  • Source: Journal of human genetics [J Hum Genet] 2023 Apr; Vol. 68 (4), pp. 239-246. Date of Electronic Publication: 2022 Dec 08.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.

  • Authors : Gu H; Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.; Yuan ZZ

Subjects: Heterotaxy Syndrome*/Heterotaxy Syndrome*/Heterotaxy Syndrome*/genetics ; Heterotaxy Syndrome*/Heterotaxy Syndrome*/Heterotaxy Syndrome*/pathology ; Situs Inversus*/Situs Inversus*/Situs Inversus*/genetics

  • Source: Journal of human genetics [J Hum Genet] 2022 Oct; Vol. 67 (10), pp. 573-577. Date of Electronic Publication: 2022 Jun 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Novel variants causing megalencephalic leukodystrophy in Sudanese families.

  • Authors : Amin M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Université de Paris, NeuroDiderot, UMR 1141, INSERM, Paris, France.

Subjects: Cysts*/Cysts*/Cysts*/diagnosis ; Cysts*/Cysts*/Cysts*/genetics ; Hereditary Central Nervous System Demyelinating Diseases*/Hereditary Central Nervous System Demyelinating Diseases*/Hereditary Central Nervous System Demyelinating Diseases*/diagnostic imaging

  • Source: Journal of human genetics [J Hum Genet] 2022 Mar; Vol. 67 (3), pp. 127-132. Date of Electronic Publication: 2021 Sep 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.

  • Authors : Pi S; Neurology Department, Xiangya Hospital, Central South University, Changsha, China.; Gong J

Subjects: Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Congenital Disorders of Glycosylation/Congenital Disorders of Glycosylation/Congenital Disorders of Glycosylation/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2022 Feb; Vol. 67 (2), pp. 103-106. Date of Electronic Publication: 2021 Aug 31.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.

  • Authors : Fabbro D; Istituto di Genetica Medica, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy.; Mio C

Subjects: Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease* ; Mutation, Missense*

  • Source: Journal of human genetics [J Hum Genet] 2021 Dec; Vol. 66 (12), pp. 1177-1180. Date of Electronic Publication: 2021 Jun 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

  • Authors : Tonduti D; Child Neurology Unit,V. Buzzi Children's Hospital, Milano, Italy. .; COALA (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy. .

Subjects: Genetic Predisposition to Disease*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Myelin Proteolipid Protein/Myelin Proteolipid Protein/Myelin Proteolipid Protein/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 1035-1037. Date of Electronic Publication: 2021 Mar 30.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

  • Authors : Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. .; Pettersson M

Subjects: Genetic Predisposition to Disease*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics ; Ciliopathies/Ciliopathies/Ciliopathies/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 995-1008. Date of Electronic Publication: 2021 Apr 20.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

  • Authors : Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.

Subjects: Genetic Predisposition to Disease* ; Genetic Variation*; Hereditary Central Nervous System Demyelinating Diseases/Hereditary Central Nervous System Demyelinating Diseases/Hereditary Central Nervous System Demyelinating Diseases/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Aug; Vol. 66 (8), pp. 761-768. Date of Electronic Publication: 2021 Feb 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

  • Authors : Willkomm L; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

Subjects: Genes, Recessive* ; Homozygote* ; Mutation*

  • Source: Journal of human genetics [J Hum Genet] 2016 Jun; Vol. 61 (6), pp. 571-3. Date of Electronic Publication: 2016 Feb 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Two novel TCTN2 mutations cause Meckel-Gruber syndrome.

  • Authors : Zhang M; Translational Medicine Center, Chinese PLA General Hospital, 28 Fuxing Road, 100853, Beijing, People's Republic of China.; Chang Z

Subjects: Genetic Predisposition to Disease*; Ciliary Motility Disorders/Ciliary Motility Disorders/Ciliary Motility Disorders/*genetics ; Encephalocele/Encephalocele/Encephalocele/*genetics Meckel syndrome type 1; Polydactyly, Postaxial

  • Source: Journal of human genetics [J Hum Genet] 2020 Nov; Vol. 65 (11), pp. 1039-1043. Date of Electronic Publication: 2020 Jul 12.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

  • Authors : Kunii M; Department of Neurology and Stroke Medicine, Yokohama City University, Yokohama, Japan.; Doi H

Subjects: Homozygote* ; Mutation*; Asian People/Asian People/Asian People/*genetics Mitochondrial Complex III Deficiency

  • Source: Journal of human genetics [J Hum Genet] 2015 Apr; Vol. 60 (4), pp. 187-91. Date of Electronic Publication: 2015 Feb 05.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly.

  • Authors : Zhang L; Center of Reproductive Medicine, Children's Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, 030013, PR China.; Zhang Z

Subjects: Genetic Testing* ; Hydrocephalus*/Hydrocephalus*/Hydrocephalus*/diagnosis ; Hydrocephalus*/Hydrocephalus*/Hydrocephalus*/genetics Cystic Kidney Disease with Ventriculomegaly

  • Source: Journal of human genetics [J Hum Genet] 2020 May; Vol. 65 (5), pp. 455-459. Date of Electronic Publication: 2020 Feb 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.

  • Authors : Liaqat K; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Center of Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Subjects: Deafness/Deafness/Deafness/*genetics ; Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/Hearing Loss, Sensorineural/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*geneticsNonsyndromic Deafness

  • Source: Journal of human genetics [J Hum Genet] 2020 Jan; Vol. 65 (2), pp. 187-192. Date of Electronic Publication: 2019 Oct 28.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

  • Authors : Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Bhavani GS

Subjects: Intracellular Signaling Peptides and Proteins/Intracellular Signaling Peptides and Proteins/Intracellular Signaling Peptides and Proteins/*genetics ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics Yunis Varon syndrome

  • Source: Journal of human genetics [J Hum Genet] 2019 Dec; Vol. 64 (12), pp. 1237-1242. Date of Electronic Publication: 2019 Oct 08.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.

  • Authors : Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.; Suzuki T

Subjects: Base Sequence* ; Codon, Initiator* ; Gene Deletion*

  • Source: Journal of human genetics [J Hum Genet] 2019 May; Vol. 64 (5), pp. 359-368. Date of Electronic Publication: 2019 Feb 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

The tumor-suppressive microRNA-143/145 cluster inhibits cell migration and invasion by targeting GOLM1 in prostate cancer.

  • Authors : Kojima S; Department of Urology, Teikyo University Chiba Medical Center, Chiba, Japan.; Enokida H

Subjects: Cell Movement* ; Gene Expression Regulation* ; Multigene Family*

  • Source: Journal of human genetics [J Hum Genet] 2014 Feb; Vol. 59 (2), pp. 78-87. Date of Electronic Publication: 2013 Nov 28.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read Online Read More Add to Saved list
×
Academic Journal

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

  • Authors : Kytövuori L; Department of Clinical Medicine, Neurology, University of Oulu, Oulu, Finland.; Seppänen A

Subjects: Genetic Predisposition to Disease* ; Genetic Variation* ; Suicide*

  • Source: Journal of human genetics [J Hum Genet] 2013 Aug; Vol. 58 (8), pp. 495-500. Date of Electronic Publication: 2013 Apr 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Analysis of KRAP expression and localization, and genes regulated by KRAP in a human colon cancer cell line.

  • Authors : Fujimoto T; Department of Cell Biology, Faculty of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan.; Koyanagi M

Subjects: Gene Expression Regulation, Neoplastic*; Colonic Neoplasms/Colonic Neoplasms/Colonic Neoplasms/*chemistry ; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2007; Vol. 52 (12), pp. 978-984. Date of Electronic Publication: 2007 Oct 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Danon disease: focusing on heart.

  • Authors : Cheng Z; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Fang Q

Subjects: Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/Glycogen Storage Disease Type IIb/*genetics ; Heart/Heart/Heart/*physiopathology ; Lysosomal Membrane Proteins/Lysosomal Membrane Proteins/Lysosomal Membrane Proteins/*metabolism

  • Source: Journal of human genetics [J Hum Genet] 2012 Jul; Vol. 57 (7), pp. 407-10. Date of Electronic Publication: 2012 Jun 14.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read Online Read More Add to Saved list
×
Academic Journal

Identification of novel LFNG mutations in spondylocostal dysostosis.

  • Authors : Otomo N; Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences RIKEN, Tokyo, Japan.; Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.

Subjects: Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Glycosyltransferases/Glycosyltransferases/Glycosyltransferases/*genetics Jarcho-Levin syndrome

  • Source: Journal of human genetics [J Hum Genet] 2019 Mar; Vol. 64 (3), pp. 261-264. Date of Electronic Publication: 2018 Dec 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

  • Authors : Liaqat K; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Chiu I

Subjects: 3' Untranslated Regions* ; Genes, Recessive* ; RNA Splice Sites*

  • Source: Journal of human genetics [J Hum Genet] 2018 Nov; Vol. 63 (11), pp. 1099-1107. Date of Electronic Publication: 2018 Sep 03.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

Periodic breathing in patients with NALCN mutations.

Subjects: Codon, Nonsense* ; Homozygote*; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2018 Oct; Vol. 63 (10), pp. 1093-1096. Date of Electronic Publication: 2018 Jul 03.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.

  • Authors : Kawamura Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.; Department of Ophthalmology, Juntendo University Graduate School of Medicine, 2-1-1, Hongou, Bunkyo-ku, Tokyo, 113-8421, Japan.

Subjects: Genetic Association Studies* ; Genetic Predisposition to Disease*; Macular Degeneration/Macular Degeneration/Macular Degeneration/*pathology

  • Source: Journal of human genetics [J Hum Genet] 2018 Aug; Vol. 63 (8), pp. 893-900. Date of Electronic Publication: 2018 May 14.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.

  • Authors : Gödiker J; Department of General Paediatrics, Metabolic Diseases, University Children's Hospital Muenster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Muenster, Germany.; Grüneberg M

Subjects: Genes, Lethal* ; Mutation* ; Psychomotor Performance*Mitochondrial encephalopathy

  • Source: Journal of human genetics [J Hum Genet] 2018 Jun; Vol. 63 (6), pp. 707-716. Date of Electronic Publication: 2018 Apr 04.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
  • 1-25 of  153 results for ""MEMBRANE proteins""